Variant report

Variant	rs4712930
Chromosome Location	chr6:25403707-25403708
allele	A/G
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	NFYB	chr6:25403444-25403794	GM12878	blood:	n/a	n/a
2	NFYB	chr6:25403484-25403763	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000253017	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10498723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10498724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10946767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10946768	0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12524380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12525031	0.82[CHB][hapmap]
rs12529416	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16890531	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16890562	0.82[CHB][hapmap]
rs2149226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2149228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2149229	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2182932	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2182933	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2328881	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2328882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4711083	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4712917	0.80[JPT][hapmap]
rs4712924	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4712925	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4712926	0.93[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4712927	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4712928	0.82[CHB][hapmap]
rs4712931	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs55672111	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56248376	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72830734	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72830739	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72830741	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72830745	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72830747	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72830750	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72830753	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72830754	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72830758	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72830759	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7751391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883485	chr6:25259137-25437986	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv883486	chr6:25260434-25422369	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv883487	chr6:25280119-25508868	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv830612	chr6:25342408-25509758	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25377400-25410600	Weak transcription	Gastric	stomach
2	chr6:25383600-25405000	Weak transcription	Fetal Intestine Small	intestine
3	chr6:25390200-25405000	Weak transcription	Adipose Nuclei	Adipose
4	chr6:25391400-25403800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr6:25397600-25405600	Weak transcription	Stomach Mucosa	stomach
6	chr6:25397800-25403800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:25397800-25403800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:25397800-25404200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:25397800-25404400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:25397800-25404400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:25398000-25404200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:25399000-25404200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:25399000-25405200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:25399200-25404400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:25402000-25404400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:25402200-25404600	Weak transcription	Aorta	Aorta
17	chr6:25402200-25405000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:25402200-25405000	Weak transcription	NHEK	skin
19	chr6:25402200-25405200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:25402200-25405200	Weak transcription	HMEC	breast
21	chr6:25402200-25406200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:25402200-25409600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:25402400-25405000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:25402600-25404200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:25403200-25404400	Enhancers	GM12878-XiMat	blood
26	chr6:25403200-25404600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:25403200-25404800	Enhancers	Primary B cells from peripheral blood	blood
28	chr6:25403400-25403800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:25403400-25404400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr6:25403400-25404400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:25403400-25404800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:25403400-25404800	Enhancers	Fetal Thymus	thymus
33	chr6:25403400-25405000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:25403600-25403800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:25403600-25403800	Enhancers	Pancreas	Pancrea
36	chr6:25403600-25403800	Enhancers	Spleen	Spleen
37	chr6:25403600-25404000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr6:25403600-25404200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr6:25403600-25404200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr6:25403600-25404400	Enhancers	Primary T cells from cord blood	blood
41	chr6:25403600-25404400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr6:25403600-25404800	Enhancers	Thymus	Thymus
43	chr6:25403600-25405000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr6:25403600-25405000	Enhancers	Primary B cells from cord blood	blood
45	chr6:25403600-25405000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr6:25403600-25405000	Enhancers	Primary hematopoietic stem cells	blood
47	chr6:25403600-25405000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:25403600-25405000	Enhancers	Duodenum Mucosa	Duodenum
49	chr6:25403600-25405200	Enhancers	Lung	lung
50	chr6:25403600-25405200	Enhancers	Right Atrium	heart

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