Variant report

Variant	rs73205796
Chromosome Location	chr3:195620037-195620038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr3:195618932-195620868	IMR90	lung:	n/a	chr3:195619820-195619830 chr3:195620577-195620587
2	NFIC	chr3:195619389-195620439	SK-N-SH	brain:	n/a	chr3:195619754-195619771 chr3:195620148-195620176 chr3:195619755-195619771
3	POLR2A	chr3:195619994-195620258	Hela-S3	cervix:	n/a	n/a
4	NFIC	chr3:195619435-195620543	ECC-1	luminal epithelium:	n/a	chr3:195619754-195619771 chr3:195620148-195620176 chr3:195619755-195619771
5	ZBTB7A	chr3:195619558-195620378	ECC-1	luminal epithelium:	n/a	n/a
6	TCF12	chr3:195619639-195620856	ECC-1	luminal epithelium:	n/a	chr3:195620642-195620652 chr3:195620669-195620676 chr3:195620685-195620695 chr3:195620495-195620505 chr3:195619771-195619781 chr3:195620643-195620650 chr3:195620494-195620501
7	NFIC	chr3:195619479-195620414	ECC-1	luminal epithelium:	n/a	chr3:195619754-195619771 chr3:195620148-195620176 chr3:195619755-195619771
8	NFIC	chr3:195619509-195620357	SK-N-SH	brain:	n/a	chr3:195619754-195619771 chr3:195620148-195620176 chr3:195619755-195619771
9	PBX3	chr3:195619464-195620298	SK-N-SH	brain:	n/a	n/a
10	TCF12	chr3:195619264-195620455	SK-N-SH	brain:	n/a	chr3:195619771-195619781

No.	Distal block	Cell Line	Cell type
1	chr3:195618618..195620399-chr3:195623360..195626055,3	MCF-7	breast:
2	chr3:195615420..195617360-chr3:195618716..195622167,3	MCF-7	breast:
3	chr3:195585687..195591910-chr3:195617865..195621709,8	K562	blood:
4	chr3:195583683..195587914-chr3:195619199..195624309,6	K562	blood:
5	chr3:195614947..195618146-chr3:195619522..195621425,3	MCF-7	breast:

Variant related genes	Relation type
TNK2	TF binding region
ENSG00000061938	Chromatin interaction
ENSG00000223783	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11185498	0.84[ASN][1000 genomes]
rs12490307	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13084520	0.80[ASN][1000 genomes]
rs4560328	0.84[ASN][1000 genomes]
rs4927788	0.91[AMR][1000 genomes]
rs58049606	0.85[EUR][1000 genomes]
rs59851848	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61218216	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62283334	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62283338	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
2	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
3	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv1001387	chr3:195186128-195661538	Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
5	nsv428102	chr3:195201080-195829426	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv428430	chr3:195201080-195829426	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv1006217	chr3:195312401-195643229	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv536882	chr3:195312401-195643229	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
9	esv1813494	chr3:195325408-195628669	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
10	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
11	nsv1006165	chr3:195383130-195777211	Bivalent Enhancer Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
12	nsv471621	chr3:195417664-195795474	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv878157	chr3:195421983-195628636	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
14	esv2751988	chr3:195433543-195651349	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
15	esv2756651	chr3:195433543-195696720	Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
16	nsv432528	chr3:195433543-195696720	Enhancers Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
17	esv2754016	chr3:195433543-195753766	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
18	nsv822410	chr3:195438740-195725565	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
19	nsv1003062	chr3:195473784-195630700	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
20	nsv878162	chr3:195475989-195641908	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
21	nsv878163	chr3:195477791-195641908	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
22	nsv997893	chr3:195501392-195642192	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
23	nsv1005193	chr3:195526571-195709662	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
24	nsv878166	chr3:195550366-195628636	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
25	nsv878167	chr3:195550366-195637439	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
26	nsv878168	chr3:195553259-195644332	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
27	nsv1002591	chr3:195564086-195643229	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
28	nsv530397	chr3:195565159-195740416	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
29	nsv878169	chr3:195571024-195628636	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
30	nsv593056	chr3:195571024-195656731	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
31	nsv1007235	chr3:195582468-195651911	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
32	nsv1002629	chr3:195582468-195769275	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
33	esv1811906	chr3:195598137-195637469	Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
34	esv1803133	chr3:195606770-195623789	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	6 gene(s)	inside rSNPs	diseases
35	nsv1014602	chr3:195606770-195661538	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
36	nsv829827	chr3:195608866-195760829	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195589400-195621800	Weak transcription	Small Intestine	intestine
2	chr3:195604800-195621600	Weak transcription	A549	lung
3	chr3:195606400-195621000	Weak transcription	Hela-S3	cervix
4	chr3:195606600-195620600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:195609200-195621000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr3:195611000-195620600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr3:195612800-195621800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:195613600-195621600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:195615000-195621200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr3:195615400-195620400	Weak transcription	GM12878-XiMat	blood
11	chr3:195615400-195620600	Weak transcription	Dnd41	blood
12	chr3:195615400-195621200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:195615800-195620200	Weak transcription	NHEK	skin
14	chr3:195616400-195620400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:195617000-195621000	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chr3:195617600-195620400	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr3:195617600-195624400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr3:195618200-195620200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:195618200-195620600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr3:195618200-195621200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:195618400-195620200	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr3:195618400-195620400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr3:195618400-195620600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:195618400-195620800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:195618400-195620800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:195618400-195621000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr3:195618400-195621000	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr3:195618400-195621400	Enhancers	Placenta	Placenta
29	chr3:195618400-195621600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:195618400-195621600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:195618600-195620400	Flanking Active TSS	HUVEC	blood vessel
32	chr3:195618600-195621200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:195618600-195621600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:195618600-195621600	Enhancers	Fetal Brain Male	brain
35	chr3:195618800-195620200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:195618800-195620200	Flanking Active TSS	Right Ventricle	heart
37	chr3:195618800-195620400	Enhancers	Duodenum Mucosa	Duodenum
38	chr3:195618800-195620400	Enhancers	Ovary	ovary
39	chr3:195618800-195620600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:195618800-195621400	Enhancers	Pancreas	Pancrea
41	chr3:195618800-195621600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr3:195619000-195620200	Flanking Active TSS	Osteobl	bone
43	chr3:195619000-195621200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:195619000-195622000	Enhancers	Gastric	stomach
45	chr3:195619200-195620400	Flanking Active TSS	HMEC	breast
46	chr3:195619200-195620800	Enhancers	Fetal Thymus	thymus
47	chr3:195619200-195621000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:195619200-195621600	Weak transcription	Fetal Kidney	kidney
49	chr3:195619200-195621600	Enhancers	Lung	lung
50	chr3:195619200-195621800	Enhancers	Placenta Amnion	Placenta Amnion

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