Variant report

Variant	rs805285
Chromosome Location	chr6:31679465-31679466
allele	C/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	GATA1	chr6:31678697-31679610	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:31676949..31679536-chr6:31784835..31786344,2	MCF-7	breast:
2	chr6:31632238..31634263-chr6:31678523..31680253,2	MCF-7	breast:
3	chr6:31677895..31680160-chr6:31702614..31704121,2	MCF-7	breast:
4	chr6:31669599..31672574-chr6:31678491..31681695,4	MCF-7	breast:

Variant related genes	Relation type
LY6G6D	TF binding region
ENSG00000204438	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000263020	Chromatin interaction
ENSG00000204427	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1065356	0.87[EUR][1000 genomes]
rs15574	0.86[EUR][1000 genomes]
rs385306	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs707916	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs707917	0.82[ASN][1000 genomes]
rs805274	0.82[ASN][1000 genomes]
rs805277	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs805281	0.82[ASN][1000 genomes]
rs805282	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs805286	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805287	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs805292	0.88[EUR][1000 genomes]
rs805294	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs805304	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs805305	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs805306	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
10	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
11	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
12	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
13	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
14	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs805285	AIF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31671600-31681600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:31671800-31695800	Weak transcription	Right Atrium	heart
3	chr6:31672000-31682800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:31672000-31685400	Weak transcription	Gastric	stomach
5	chr6:31677600-31682400	Enhancers	K562	blood
6	chr6:31677600-31683600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:31677800-31680000	Enhancers	Primary hematopoietic stem cells	blood
8	chr6:31677800-31680200	Enhancers	Spleen	Spleen
9	chr6:31677800-31680600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:31678200-31679600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr6:31678200-31679600	Enhancers	Fetal Thymus	thymus
12	chr6:31678200-31680200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:31678200-31680200	Enhancers	Primary B cells from peripheral blood	blood
14	chr6:31678400-31679600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr6:31678400-31679800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr6:31678400-31680200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:31678400-31680400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:31678400-31683200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr6:31678400-31684200	Enhancers	Fetal Brain Male	brain
20	chr6:31678600-31679600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:31678600-31679600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr6:31678600-31679600	Enhancers	HUVEC	blood vessel
23	chr6:31678600-31679600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr6:31678600-31679800	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr6:31678600-31680200	Enhancers	Placenta	Placenta
26	chr6:31678600-31680200	Enhancers	Stomach Mucosa	stomach
27	chr6:31678800-31679600	Enhancers	HMEC	breast
28	chr6:31678800-31679800	Enhancers	Primary T cells from cord blood	blood
29	chr6:31678800-31679800	Enhancers	Duodenum Mucosa	Duodenum
30	chr6:31678800-31680000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr6:31678800-31680000	Weak transcription	Pancreas	Pancrea
32	chr6:31678800-31680200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:31678800-31681200	Weak transcription	Thymus	Thymus
34	chr6:31679000-31679600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:31679000-31679600	Flanking Active TSS	NHEK	skin
36	chr6:31679000-31680000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr6:31679000-31680400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:31679000-31681200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:31679000-31681600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:31679200-31679600	Weak transcription	Esophagus	oesophagus
41	chr6:31679200-31679600	Bivalent Enhancer	HepG2	liver
42	chr6:31679200-31679800	Enhancers	Hela-S3	cervix
43	chr6:31679200-31680000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:31679200-31680200	Weak transcription	Small Intestine	intestine
45	chr6:31679200-31680400	Weak transcription	Fetal Intestine Large	intestine
46	chr6:31679200-31681200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:31679200-31681200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:31679200-31681200	Weak transcription	Fetal Intestine Small	intestine
49	chr6:31679200-31681600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:31679200-31683600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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