Variant report

Variant	rs2137193
Chromosome Location	chr3:196294717-196294718
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr3:196293701-196297089	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr3:196294687-196294784	H1-hESC	embryonic stem cell:	n/a	n/a
3	HEY1	chr3:196294533-196295876	K562	blood:	n/a	chr3:196295565-196295580
4	POLR2A	chr3:196294472-196296069	SK-N-MC	brain:	n/a	n/a
5	MYC	chr3:196294683-196294762	MCF-7	breast:	n/a	n/a
6	POLR2A	chr3:196294714-196296360	GM12892	blood:	n/a	n/a
7	MXI1	chr3:196294489-196296572	IMR90	lung:	n/a	n/a
8	POLR2A	chr3:196294563-196294797	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr3:196293763-196296428	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr3:196294612-196294833	MCF-7	breast:	n/a	n/a
11	CTCF	chr3:196294646-196294742	MCF-7	breast:	n/a	n/a
12	POLR2A	chr3:196294526-196295835	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr3:196294670-196295851	K562	blood:	n/a	n/a
14	MXI1	chr3:196294448-196297042	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr3:196294061-196296218	HepG2	liver:	n/a	n/a
16	POLR2A	chr3:196294564-196296262	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr3:196294323-196296379	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr3:196294714-196294722	MCF-7	breast:	n/a	n/a
19	POLR2A	chr3:196294658-196294743	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:196292428..196296416-chr3:196668494..196671676,5	MCF-7	breast:
2	chr3:196294271..196297444-chr3:196668008..196671102,3	K562	blood:
3	chr3:196294148..196296034-chr6:26157528..26159567,2	MCF-7	breast:
4	chr3:196228489..196231887-chr3:196292830..196296417,3	MCF-7	breast:
5	chr3:196294271..196297444-chr3:196668008..196671102,4	K562	blood:
6	chr3:196294586..196296980-chr3:196730003..196731682,2	MCF-7	breast:
7	chr3:196293710..196295856-chr3:196756425..196758030,2	K562	blood:
8	chr3:196293733..196296360-chr3:196359092..196361282,2	MCF-7	breast:
9	chr3:196294356..196296088-chr3:196755433..196757925,2	K562	blood:
10	chr3:196292826..196295435-chr3:196358532..196360090,2	K562	blood:
11	chr3:196228351..196232071-chr3:196294107..196297178,4	MCF-7	breast:

No data

Variant related genes	Relation type
WDR53	TF binding region
FBXO45	TF binding region
ENSG00000158373	Chromatin interaction
ENSG00000270170	Chromatin interaction
ENSG00000114503	Chromatin interaction
ENSG00000232065	Chromatin interaction
ENSG00000163961	Chromatin interaction
ENSG00000163975	Chromatin interaction
ENSG00000228109	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11185545	0.92[AMR][1000 genomes]
rs1124996	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706197	0.84[AMR][1000 genomes]
rs11707537	0.83[EUR][1000 genomes]
rs12494859	0.86[AMR][1000 genomes]
rs12495687	0.86[AMR][1000 genomes]
rs1355533	0.93[ASN][1000 genomes]
rs2054748	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2054749	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2054750	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28479172	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2880030	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34292861	0.92[EUR][1000 genomes]
rs4916433	0.92[EUR][1000 genomes]
rs57365032	0.85[AMR][1000 genomes]
rs60668021	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62410583	0.85[AMR][1000 genomes]
rs6583318	0.81[AMR][1000 genomes]
rs6799694	0.86[AMR][1000 genomes]
rs6799697	0.89[AMR][1000 genomes]
rs7619117	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7621684	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7626039	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9311	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9647412	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9647413	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9811428	0.89[AMR][1000 genomes]
rs9813420	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9814342	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9817377	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9828786	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9831225	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9843607	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9853777	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9854347	0.85[AMR][1000 genomes]
rs9858251	0.85[AMR][1000 genomes]
rs9868492	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9870613	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1010483	chr3:196210054-196319543	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv536896	chr3:196210054-196319543	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv491864	chr3:196263064-196468533	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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 target site	43 gene(s)	inside rSNPs	diseases
10	nsv829828	chr3:196268121-196463641	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv1010643	chr3:196288064-196788645	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196288400-196294800	Weak transcription	Aorta	Aorta
2	chr3:196293800-196295000	Enhancers	Spleen	Spleen
3	chr3:196294000-196296400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr3:196294200-196294800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:196294200-196294800	Enhancers	Primary B cells from peripheral blood	blood
6	chr3:196294200-196294800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr3:196294200-196294800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:196294200-196294800	Flanking Active TSS	HMEC	breast
9	chr3:196294200-196295000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr3:196294200-196295000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:196294200-196295000	Flanking Active TSS	Dnd41	blood
12	chr3:196294200-196295000	Flanking Active TSS	NHEK	skin
13	chr3:196294200-196296200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:196294200-196296600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr3:196294200-196296600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr3:196294200-196296800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr3:196294200-196297000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:196294400-196294800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr3:196294400-196294800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:196294400-196294800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:196294400-196294800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr3:196294400-196294800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:196294400-196294800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr3:196294400-196294800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:196294400-196294800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:196294400-196294800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr3:196294400-196294800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:196294400-196294800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:196294400-196294800	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr3:196294400-196294800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:196294400-196294800	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr3:196294400-196294800	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr3:196294400-196294800	Flanking Active TSS	Fetal Kidney	kidney
34	chr3:196294400-196294800	Flanking Active TSS	Fetal Lung	lung
35	chr3:196294400-196294800	Enhancers	Stomach Mucosa	stomach
36	chr3:196294400-196294800	Flanking Active TSS	Thymus	Thymus
37	chr3:196294400-196294800	Flanking Active TSS	GM12878-XiMat	blood
38	chr3:196294400-196294800	Flanking Active TSS	NH-A	brain
39	chr3:196294400-196294800	Flanking Active TSS	NHDF-Ad	bronchial
40	chr3:196294400-196294800	Flanking Active TSS	NHLF	lung
41	chr3:196294400-196295000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:196294400-196295000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr3:196294400-196295000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:196294400-196295000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:196294400-196295000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:196294400-196295000	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr3:196294400-196295000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr3:196294400-196295000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr3:196294400-196295000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr3:196294400-196295000	Flanking Active TSS	Hela-S3	cervix

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