Variant report

Variant	rs10807185
Chromosome Location	chr6:37515493-37515494
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	ZNF384	chr6:37515311-37515542	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:37515360-37515995	HUVEC	blood vessel:	n/a	n/a
3	TAF1	chr6:37515238-37515602	GM12878	blood:	n/a	n/a
4	MTA3	chr6:37515090-37516365	GM12878	blood:	n/a	n/a
5	NFIC	chr6:37515374-37515906	SK-N-SH	brain:	n/a	n/a
6	TCF3	chr6:37515307-37515496	GM12878	blood:	n/a	n/a
7	NFIC	chr6:37515368-37515976	ECC-1	luminal epithelium:	n/a	n/a
8	EP300	chr6:37515343-37515503	GM12878	blood:	n/a	n/a
9	ELF1	chr6:37515199-37515951	GM12878	blood:	n/a	n/a
10	REST	chr6:37515405-37515912	PFSK-1	brain:	n/a	n/a
11	PAX5	chr6:37515205-37515581	GM12878	blood:	n/a	n/a
12	PAX5	chr6:37515245-37515511	GM12878	blood:	n/a	n/a
13	BCLAF1	chr6:37515155-37515648	GM12878	blood:	n/a	n/a
14	RUNX3	chr6:37515151-37515831	GM12878	blood:	n/a	n/a
15	FOXM1	chr6:37515209-37515648	GM12878	blood:	n/a	n/a
16	PBX3	chr6:37515426-37515873	SK-N-SH	brain:	n/a	n/a
17	RELA	chr6:37515310-37516031	GM19099	blood:	n/a	n/a
18	EBF1	chr6:37515178-37515502	GM12878	blood:	n/a	n/a
19	NFIC	chr6:37515368-37515957	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr6:37515231-37515799	GM12892	blood:	n/a	n/a
21	GABPA	chr6:37515309-37515515	GM12878	blood:	n/a	n/a
22	RUNX3	chr6:37515204-37515822	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:37515449-37515867	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr6:37515449-37515879	PFSK-1	brain:	n/a	n/a
25	ZNF143	chr6:37515393-37515685	GM12878	blood:	n/a	n/a
26	NFIC	chr6:37515341-37516061	SK-N-SH	brain:	n/a	n/a
27	REST	chr6:37515372-37515899	PFSK-1	brain:	n/a	n/a
28	ATF2	chr6:37515181-37515703	GM12878	blood:	n/a	n/a
29	SIN3AK20	chr6:37515400-37515852	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000229559	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10456454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947677	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797785	0.89[ASN][1000 genomes]
rs6457993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7741390	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7741865	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh 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
2	nsv1016310	chr6:37473075-37528469	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv462914	chr6:37502585-37517485	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv602954	chr6:37502585-37517485	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37504400-37529200	Weak transcription	Right Atrium	heart
2	chr6:37507800-37520000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:37510800-37533800	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:37512600-37518000	Enhancers	Primary B cells from cord blood	blood
5	chr6:37513400-37516000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:37513600-37515800	Enhancers	NHEK	skin
7	chr6:37513600-37516400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:37513600-37517400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr6:37513800-37515600	Weak transcription	Right Ventricle	heart
10	chr6:37513800-37516600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:37513800-37517600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:37514000-37516400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:37514000-37516600	Enhancers	HMEC	breast
14	chr6:37514200-37516000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:37514200-37516200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr6:37514200-37516400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:37514200-37521400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:37514200-37522800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:37514400-37515600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:37514400-37516400	Enhancers	HUVEC	blood vessel
21	chr6:37514400-37519600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:37514400-37520000	Weak transcription	A549	lung
23	chr6:37514400-37520400	Enhancers	Fetal Thymus	thymus
24	chr6:37514400-37521400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr6:37514800-37515600	Enhancers	Fetal Muscle Leg	muscle
26	chr6:37514800-37515600	Enhancers	Spleen	Spleen
27	chr6:37514800-37516200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:37514800-37516400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr6:37515000-37516000	Enhancers	Primary T cells from cord blood	blood
30	chr6:37515000-37516400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr6:37515000-37516600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr6:37515000-37517000	Enhancers	Esophagus	oesophagus
33	chr6:37515000-37521200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:37515200-37515600	Enhancers	Duodenum Mucosa	Duodenum
35	chr6:37515200-37516000	Enhancers	Adipose Nuclei	Adipose
36	chr6:37515200-37516200	Enhancers	Fetal Muscle Trunk	muscle
37	chr6:37515200-37516400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr6:37515200-37517000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr6:37515200-37517200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr6:37515200-37517400	Enhancers	Thymus	Thymus
41	chr6:37515400-37515800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:37515400-37515800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:37515400-37515800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:37515400-37515800	Enhancers	Placenta	Placenta
45	chr6:37515400-37515800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
46	chr6:37515400-37516000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr6:37515400-37516000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:37515400-37516000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:37515400-37516000	Enhancers	Brain Germinal Matrix	brain
50	chr6:37515400-37516000	Enhancers	Fetal Brain Female	brain

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