Variant report

Variant	rs808615
Chromosome Location	chr6:4889923-4889924
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	SPI1	chr6:4889801-4890418	HL-60	blood:	n/a	chr6:4890369-4890382 chr6:4890121-4890128
2	MYC	chr6:4889898-4890694	NB4	blood:	n/a	chr6:4890595-4890602 chr6:4890374-4890384
3	MAX	chr6:4889912-4890618	NB4	blood:	n/a	chr6:4890595-4890602 chr6:4890374-4890384
4	POLR2A	chr6:4889900-4889991	ProgFib	skin:	n/a	n/a
5	GABPA	chr6:4889805-4890534	HL-60	blood:	n/a	n/a
6	GABPA	chr6:4889846-4890425	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
CDYL	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1265336	0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs1771884	0.87[ASN][1000 genomes]
rs1883327	0.93[ASW][hapmap];0.87[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs233477	0.94[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs233479	0.86[ASW][hapmap];1.00[JPT][hapmap]
rs55653939	0.81[ASN][1000 genomes]
rs6925763	0.84[ASN][1000 genomes]
rs73364556	0.82[ASN][1000 genomes]
rs808589	0.92[ASN][1000 genomes]
rs808603	0.93[ASN][1000 genomes]
rs808611	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs808622	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4865600-4892200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:4869600-4890000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:4871400-4891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:4871400-4892000	Weak transcription	NHEK	skin
5	chr6:4872000-4892000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:4872200-4898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:4874000-4891200	Weak transcription	Primary T cells from cord blood	blood
8	chr6:4874200-4892000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:4874200-4892000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:4874200-4894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:4874800-4892000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:4875200-4892000	Weak transcription	Aorta	Aorta
13	chr6:4875600-4890200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:4877000-4892400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:4877200-4892000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:4877200-4892800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:4877400-4891400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:4877400-4892000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:4877400-4892000	Weak transcription	Ovary	ovary
20	chr6:4877400-4892200	Weak transcription	Esophagus	oesophagus
21	chr6:4878200-4905200	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:4879600-4906200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:4880400-4891000	Weak transcription	Fetal Heart	heart
24	chr6:4880400-4892200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:4880400-4907800	Weak transcription	Small Intestine	intestine
26	chr6:4880600-4890000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:4880600-4892000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:4880600-4892000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr6:4880600-4898600	Weak transcription	HSMM	muscle
30	chr6:4881000-4891600	Weak transcription	HepG2	liver
31	chr6:4881000-4892200	Weak transcription	Colonic Mucosa	Colon
32	chr6:4881000-4892600	Weak transcription	K562	blood
33	chr6:4881200-4892000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr6:4881200-4892200	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:4881200-4893200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:4881400-4891600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:4881400-4892000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:4881400-4892000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr6:4882600-4892200	Weak transcription	Brain Angular Gyrus	brain
40	chr6:4882600-4892600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:4882800-4894400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:4882800-4909000	Weak transcription	Brain Anterior Caudate	brain
43	chr6:4884000-4890000	Weak transcription	Left Ventricle	heart
44	chr6:4884000-4892000	Weak transcription	Fetal Stomach	stomach
45	chr6:4884000-4892200	Weak transcription	Gastric	stomach
46	chr6:4884000-4892200	Weak transcription	Right Ventricle	heart
47	chr6:4884000-4893000	Weak transcription	Thymus	Thymus
48	chr6:4884000-4898400	Weak transcription	Psoas Muscle	Psoas
49	chr6:4884200-4890000	Weak transcription	Spleen	Spleen
50	chr6:4884200-4892000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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