Variant report

Variant	rs35968178
Chromosome Location	chr3:50386389-50386390
allele	C/G/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	POLR2A	chr3:50386153-50386429	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:50386307-50386421	K562	blood:	n/a	n/a
3	POLR2A	chr3:50386388-50387620	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50384788..50386496-chr3:50388096..50390372,2	MCF-7	breast:
2	chr3:50386112..50390194-chr3:50392847..50399521,11	MCF-7	breast:

Variant related genes	Relation type
ZMYND10	TF binding region
ENSG00000272104	TF binding region
NPRL2	TF binding region
CYB561D2	TF binding region
ENSG00000272104	Chromatin interaction
ENSG00000126062	Chromatin interaction
ENSG00000114395	Chromatin interaction
ENSG00000114388	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11554989	1.00[AMR][1000 genomes]
rs13072164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34797487	1.00[AMR][1000 genomes]
rs451039	1.00[AMR][1000 genomes]
rs637431	1.00[AMR][1000 genomes]
rs6777625	1.00[AMR][1000 genomes]
rs6779184	1.00[AMR][1000 genomes]
rs6788251	1.00[AMR][1000 genomes]
rs6790729	1.00[AMR][1000 genomes]
rs6791799	1.00[AMR][1000 genomes]
rs6792611	1.00[AMR][1000 genomes]
rs6792754	1.00[AMR][1000 genomes]
rs6807067	1.00[AMR][1000 genomes]
rs7610897	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
6	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
7	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic 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	103 gene(s)	inside rSNPs	diseases
8	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
9	nsv834692	chr3:50198485-50393464	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	nsv590254	chr3:50243510-50388607	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
11	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
12	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
13	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers 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	93 gene(s)	inside rSNPs	diseases
14	nsv590257	chr3:50302830-50393640	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription 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 miRNA target site	82 gene(s)	inside rSNPs	diseases
15	nsv590256	chr3:50302830-50420554	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
16	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
17	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
18	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
19	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
20	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50379000-50386800	Weak transcription	Small Intestine	intestine
2	chr3:50383400-50386800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:50383400-50386800	Weak transcription	Left Ventricle	heart
4	chr3:50383400-50387600	Weak transcription	Aorta	Aorta
5	chr3:50383600-50386400	Weak transcription	Fetal Brain Male	brain
6	chr3:50383600-50386800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:50383600-50386800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr3:50383600-50386800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:50383600-50386800	Weak transcription	Psoas Muscle	Psoas
10	chr3:50383600-50386800	Weak transcription	Right Atrium	heart
11	chr3:50383600-50387000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:50383600-50387000	Weak transcription	HSMM	muscle
13	chr3:50383600-50387000	Weak transcription	NH-A	brain
14	chr3:50383600-50387200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:50383600-50387200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:50383600-50387200	Weak transcription	HMEC	breast
17	chr3:50383600-50387200	Weak transcription	HSMMtube	muscle
18	chr3:50383600-50387200	Weak transcription	HUVEC	blood vessel
19	chr3:50383600-50387200	Weak transcription	K562	blood
20	chr3:50383800-50387600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:50384200-50386800	Weak transcription	Fetal Heart	heart
22	chr3:50384200-50387200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:50384200-50387400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:50384800-50386400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr3:50384800-50386600	Genic enhancers	Esophagus	oesophagus
26	chr3:50384800-50386800	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr3:50384800-50386800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr3:50384800-50387000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr3:50384800-50387000	Genic enhancers	Fetal Muscle Leg	muscle
30	chr3:50384800-50387200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:50384800-50387200	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr3:50385000-50386400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:50385000-50386400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:50385000-50386400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr3:50385000-50386400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr3:50385000-50386600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:50385000-50386600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:50385000-50386600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chr3:50385000-50386600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:50385000-50386600	Strong transcription	Fetal Intestine Small	intestine
41	chr3:50385000-50386600	Genic enhancers	Gastric	stomach
42	chr3:50385000-50386600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr3:50385000-50386600	Strong transcription	GM12878-XiMat	blood
44	chr3:50385000-50386800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:50385000-50386800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:50385000-50386800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:50385000-50386800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:50385000-50386800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:50385000-50386800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:50385000-50386800	Strong transcription	Fetal Intestine Large	intestine

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