Variant report

Variant	rs4712931
Chromosome Location	chr6:25404018-25404019
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	CEBPB	chr6:25403880-25404023	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000253017	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10498723	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs10498724	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs10946766	0.81[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10946767	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs10946768	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs12524380	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs12525031	0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12529416	0.85[JPT][hapmap]
rs16890562	0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149226	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs2149228	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs2328882	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs4711083	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs4712924	0.92[JPT][hapmap]
rs4712925	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs4712926	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs4712928	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4712930	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs7751391	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs926403	0.88[JPT][hapmap]
rs926404	0.83[JPT][hapmap]

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:62 , 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	chr6:25397600-25405600	Weak transcription	Stomach Mucosa	stomach
5	chr6:25397800-25404200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:25397800-25404400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:25397800-25404400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:25398000-25404200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:25399000-25404200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:25399000-25405200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:25399200-25404400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:25402000-25404400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:25402200-25404600	Weak transcription	Aorta	Aorta
14	chr6:25402200-25405000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:25402200-25405000	Weak transcription	NHEK	skin
16	chr6:25402200-25405200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:25402200-25405200	Weak transcription	HMEC	breast
18	chr6:25402200-25406200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:25402200-25409600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:25402400-25405000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:25402600-25404200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:25403200-25404400	Enhancers	GM12878-XiMat	blood
23	chr6:25403200-25404600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:25403200-25404800	Enhancers	Primary B cells from peripheral blood	blood
25	chr6:25403400-25404400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:25403400-25404400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:25403400-25404800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:25403400-25404800	Enhancers	Fetal Thymus	thymus
29	chr6:25403400-25405000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:25403600-25404200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:25403600-25404200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr6:25403600-25404400	Enhancers	Primary T cells from cord blood	blood
33	chr6:25403600-25404400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr6:25403600-25404800	Enhancers	Thymus	Thymus
35	chr6:25403600-25405000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr6:25403600-25405000	Enhancers	Primary B cells from cord blood	blood
37	chr6:25403600-25405000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr6:25403600-25405000	Enhancers	Primary hematopoietic stem cells	blood
39	chr6:25403600-25405000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:25403600-25405000	Enhancers	Duodenum Mucosa	Duodenum
41	chr6:25403600-25405200	Enhancers	Lung	lung
42	chr6:25403600-25405200	Enhancers	Right Atrium	heart
43	chr6:25403600-25405200	Enhancers	Small Intestine	intestine
44	chr6:25403600-25406000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:25403600-25406400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr6:25403600-25408200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:25403800-25404400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr6:25403800-25404400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr6:25403800-25404400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr6:25403800-25404400	Enhancers	Monocytes-CD14+_RO01746	blood

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