Variant report

Variant	rs805305
Chromosome Location	chr6:31697387-31697388
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	EP300	chr6:31697045-31697489	H1-hESC	embryonic stem cell:	n/a	chr6:31697306-31697319
2	TRIM28	chr6:31696949-31699148	K562	blood:	n/a	n/a
3	POLR2A	chr6:31697134-31698402	H1-neurons	neurons:	n/a	n/a
4	NFIC	chr6:31697057-31698038	HepG2	liver:	n/a	n/a
5	USF1	chr6:31697140-31698317	K562	blood:	n/a	n/a
6	CHD2	chr6:31697175-31697450	H1-hESC	embryonic stem cell:	n/a	n/a
7	THAP1	chr6:31697176-31698278	K562	blood:	n/a	n/a
8	RAD21	chr6:31696640-31698493	SK-N-SH	brain:	n/a	n/a
9	MAX	chr6:31696965-31698353	MCF-7	breast:	n/a	chr6:31697426-31697436
10	CTCF	chr6:31697240-31697390	HepG2	liver:	n/a	chr6:31697292-31697310 chr6:31697293-31697309
11	POLR2A	chr6:31697171-31698404	H1-neurons	neurons:	n/a	n/a
12	CTCF	chr6:31697061-31697533	GM12878	blood:	n/a	chr6:31697292-31697310 chr6:31697293-31697309
13	TEAD4	chr6:31696522-31699163	K562	blood:	n/a	n/a
14	POLR2A	chr6:31695670-31699628	K562	blood:	n/a	n/a
15	POLR2A	chr6:31696967-31698995	PFSK-1	brain:	n/a	n/a
16	RAD21	chr6:31697082-31697722	HepG2	liver:	n/a	n/a
17	NR2F2	chr6:31694887-31699102	K562	blood:	n/a	n/a
18	TBL1XR1	chr6:31696282-31698329	K562	blood:	n/a	n/a
19	POLR2A	chr6:31697148-31699058	K562	blood:	n/a	n/a
20	STAT5A	chr6:31696873-31698965	K562	blood:	n/a	chr6:31698284-31698292
21	PML	chr6:31696928-31698517	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:31697110-31698388	HCT-116	colon:	n/a	n/a
23	POLR2A	chr6:31696886-31700880	HepG2	liver:	n/a	n/a
24	MAZ	chr6:31697088-31697995	HepG2	liver:	n/a	chr6:31697426-31697436
25	BCLAF1	chr6:31696366-31699221	K562	blood:	n/a	chr6:31697428-31697441
26	MXI1	chr6:31697181-31698279	HepG2	liver:	n/a	n/a
27	NFIC	chr6:31697101-31697634	HepG2	liver:	n/a	n/a
28	JUND	chr6:31697191-31697416	HepG2	liver:	n/a	n/a
29	ZMIZ1	chr6:31696913-31698951	K562	blood:	n/a	n/a
30	USF2	chr6:31697066-31697618	K562	blood:	n/a	n/a
31	PAX5	chr6:31697182-31697639	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:31696544-31699049	GM12892	blood:	n/a	n/a
33	CTCF	chr6:31697240-31697390	HPF	lung:	n/a	chr6:31697292-31697310 chr6:31697293-31697309
34	SP4	chr6:31697060-31698320	H1-hESC	embryonic stem cell:	n/a	chr6:31697327-31697343 chr6:31697629-31697645 chr6:31697631-31697647 chr6:31698058-31698074 chr6:31697329-31697345 chr6:31697618-31697629
35	MAX	chr6:31697016-31698369	SK-N-SH	brain:	n/a	chr6:31697426-31697436
36	ZBTB7A	chr6:31696930-31698519	ECC-1	luminal epithelium:	n/a	chr6:31697805-31697813
37	BCL3	chr6:31697013-31698383	A549	lung:	n/a	chr6:31697428-31697441
38	SIN3AK20	chr6:31697184-31697732	HepG2	liver:	n/a	n/a
39	POLR2A	chr6:31696976-31699046	GM12892	blood:	n/a	n/a
40	YY1	chr6:31697099-31697608	H1-hESC	embryonic stem cell:	n/a	chr6:31697331-31697340
41	YY1	chr6:31697048-31697515	GM12878	blood:	n/a	chr6:31697331-31697340
42	CTCF	chr6:31697162-31697420	ProgFib	skin:	n/a	chr6:31697292-31697310 chr6:31697293-31697309
43	CHD1	chr6:31697186-31697480	H1-hESC	embryonic stem cell:	n/a	n/a
44	ZBTB7A	chr6:31697106-31697457	HepG2	liver:	n/a	n/a
45	POLR2A	chr6:31696855-31699061	PANC-1	pancreas:	n/a	n/a
46	PBX3	chr6:31696952-31698474	SK-N-SH	brain:	n/a	chr6:31697534-31697554
47	RAD21	chr6:31697004-31698067	HepG2	liver:	n/a	n/a
48	ATF2	chr6:31697048-31697719	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr6:31697068-31697479	MCF-7	breast:	n/a	chr6:31697292-31697310 chr6:31697293-31697309
50	SIN3AK20	chr6:31697180-31698206	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:31694918..31699964-chr6:31826467..31832957,9	K562	blood:
2	chr6:31697061..31698060-chr6:31802013..31803127,3	K562	blood:
3	chr17:56708928..56709577-chr6:31697174..31698048,2	MCF-7	breast:
4	chr6:31513237..31516038-chr6:31696007..31697508,2	K562	blood:
5	chr6:31697087..31699964-chr6:31831308..31832957,3	K562	blood:
6	chr6:26124251..26127166-chr6:31695138..31698033,2	K562	blood:
7	chr6:31594249..31597266-chr6:31695833..31699351,4	MCF-7	breast:
8	chr6:31696408..31700150-chr6:31800226..31805691,5	MCF-7	breast:
9	chr19:18497054..18498621-chr6:31695966..31697891,2	K562	blood:
10	chr6:31697326..31699677-chr6:31802341..31805046,2	MCF-7	breast:
11	chr6:31647431..31650863-chr6:31697294..31699656,3	MCF-7	breast:
12	chr6:31696116..31699055-chr6:31743914..31747307,3	MCF-7	breast:
13	chr6:31696888..31697817-chr6:31762900..31763783,2	K562	blood:
14	chr6:31668218..31672980-chr6:31695553..31699160,10	MCF-7	breast:
15	chr5:137798816..137801346-chr6:31695628..31697899,2	K562	blood:

Variant related genes	Relation type
DDAH2	TF binding region
ENSG00000212195	Chromatin interaction
ENSG00000204428	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000254870	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000201555	Chromatin interaction
ENSG00000120738	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000204498	Chromatin interaction
ENSG00000204396	Chromatin interaction
ENSG00000201754	Chromatin interaction
ENSG00000204394	Chromatin interaction
ENSG00000213760	Chromatin interaction
ENSG00000204427	Chromatin interaction
ENSG00000266776	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs385306	0.97[ASN][1000 genomes]
rs707916	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs707928	0.81[EUR][1000 genomes]
rs805285	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs805286	0.95[ASN][1000 genomes]
rs805287	0.81[ASN][1000 genomes]
rs805293	0.82[AFR][1000 genomes]
rs805294	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805304	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805306	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
15	nsv884425	chr6:31688518-31698544	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs805305	AIF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31693600-31697400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:31694600-31697800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr6:31694800-31698800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:31695000-31699000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:31695400-31697400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr6:31695400-31697600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:31695400-31698400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:31695600-31698400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr6:31695600-31698400	Active TSS	Fetal Kidney	kidney
10	chr6:31695800-31698200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:31696000-31698200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:31696000-31698400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:31696000-31698400	Active TSS	Aorta	Aorta
14	chr6:31696200-31697400	Active TSS	Right Atrium	heart
15	chr6:31696200-31697600	Flanking Active TSS	Colonic Mucosa	Colon
16	chr6:31696200-31698200	Active TSS	Rectal Smooth Muscle	rectum
17	chr6:31696200-31698400	Active TSS	Colon Smooth Muscle	Colon
18	chr6:31696400-31697400	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr6:31696400-31697800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:31696400-31697800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr6:31696400-31698200	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr6:31696400-31698200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr6:31696400-31698200	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr6:31696400-31698200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr6:31696400-31698200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr6:31696400-31698400	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr6:31696400-31698400	Flanking Active TSS	Fetal Thymus	thymus
28	chr6:31696400-31698400	Active TSS	HSMMtube	muscle
29	chr6:31696600-31697600	Flanking Active TSS	Liver	Liver
30	chr6:31696600-31698200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:31696600-31698200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr6:31696600-31698200	Flanking Active TSS	Pancreas	Pancrea
33	chr6:31696600-31698200	Active TSS	A549	lung
34	chr6:31696600-31698200	Active TSS	NHDF-Ad	bronchial
35	chr6:31696600-31698400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:31696600-31698400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:31696800-31697400	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr6:31696800-31697600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr6:31696800-31697600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:31696800-31697600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr6:31696800-31697600	Flanking Active TSS	Stomach Mucosa	stomach
42	chr6:31696800-31697800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr6:31696800-31698000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:31696800-31698000	Active TSS	Placenta Amnion	Placenta Amnion
45	chr6:31696800-31698000	Active TSS	Thymus	Thymus
46	chr6:31696800-31698000	Active TSS	NHLF	lung
47	chr6:31696800-31698200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:31696800-31698200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr6:31696800-31698200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr6:31696800-31698200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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