Variant report

Variant	rs707916
Chromosome Location	chr6:31697558-31697559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:393)
CpG islands
(count:122)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr6:31696949-31699148	K562	blood:	n/a	n/a
2	POLR2A	chr6:31697134-31698402	H1-neurons	neurons:	n/a	n/a
3	NFIC	chr6:31697057-31698038	HepG2	liver:	n/a	n/a
4	USF1	chr6:31697140-31698317	K562	blood:	n/a	n/a
5	THAP1	chr6:31697176-31698278	K562	blood:	n/a	n/a
6	RAD21	chr6:31696640-31698493	SK-N-SH	brain:	n/a	n/a
7	MAX	chr6:31696965-31698353	MCF-7	breast:	n/a	chr6:31697426-31697436
8	POLR2A	chr6:31697171-31698404	H1-neurons	neurons:	n/a	n/a
9	TEAD4	chr6:31696522-31699163	K562	blood:	n/a	n/a
10	POLR2A	chr6:31695670-31699628	K562	blood:	n/a	n/a
11	POLR2A	chr6:31696967-31698995	PFSK-1	brain:	n/a	n/a
12	RAD21	chr6:31697082-31697722	HepG2	liver:	n/a	n/a
13	NR2F2	chr6:31694887-31699102	K562	blood:	n/a	n/a
14	TBL1XR1	chr6:31696282-31698329	K562	blood:	n/a	n/a
15	POLR2A	chr6:31697148-31699058	K562	blood:	n/a	n/a
16	STAT5A	chr6:31696873-31698965	K562	blood:	n/a	chr6:31698284-31698292
17	PML	chr6:31696928-31698517	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:31697110-31698388	HCT-116	colon:	n/a	n/a
19	POLR2A	chr6:31696886-31700880	HepG2	liver:	n/a	n/a
20	CTCF	chr6:31697552-31697597	LNCaP	prostate:	n/a	n/a
21	MAZ	chr6:31697088-31697995	HepG2	liver:	n/a	chr6:31697426-31697436
22	BCLAF1	chr6:31696366-31699221	K562	blood:	n/a	chr6:31697428-31697441
23	MXI1	chr6:31697181-31698279	HepG2	liver:	n/a	n/a
24	NFIC	chr6:31697101-31697634	HepG2	liver:	n/a	n/a
25	ZMIZ1	chr6:31696913-31698951	K562	blood:	n/a	n/a
26	USF2	chr6:31697066-31697618	K562	blood:	n/a	n/a
27	PAX5	chr6:31697182-31697639	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:31696544-31699049	GM12892	blood:	n/a	n/a
29	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
30	MAX	chr6:31697016-31698369	SK-N-SH	brain:	n/a	chr6:31697426-31697436
31	ZBTB7A	chr6:31696930-31698519	ECC-1	luminal epithelium:	n/a	chr6:31697805-31697813
32	BCL3	chr6:31697013-31698383	A549	lung:	n/a	chr6:31697428-31697441
33	SIN3AK20	chr6:31697184-31697732	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:31696976-31699046	GM12892	blood:	n/a	n/a
35	YY1	chr6:31697099-31697608	H1-hESC	embryonic stem cell:	n/a	chr6:31697331-31697340
36	POLR2A	chr6:31696855-31699061	PANC-1	pancreas:	n/a	n/a
37	CEBPD	chr6:31697449-31697933	HepG2	liver:	n/a	n/a
38	PBX3	chr6:31696952-31698474	SK-N-SH	brain:	n/a	chr6:31697534-31697554
39	RAD21	chr6:31697004-31698067	HepG2	liver:	n/a	n/a
40	ATF2	chr6:31697048-31697719	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3AK20	chr6:31697180-31698206	PFSK-1	brain:	n/a	n/a
42	ELK1	chr6:31697139-31698419	K562	blood:	n/a	n/a
43	TBP	chr6:31697265-31697611	HepG2	liver:	n/a	n/a
44	POLR2A	chr6:31696328-31698372	K562	blood:	n/a	n/a
45	CTCF	chr6:31697500-31697650	SK-N-SH_RA	brain:	n/a	chr6:31697630-31697640
46	RAD21	chr6:31696753-31698368	HCT-116	colon:	n/a	n/a
47	EP300	chr6:31697129-31698921	K562	blood:	n/a	chr6:31697306-31697319
48	POLR2A	chr6:31697425-31698247	A549	lung:	n/a	n/a
49	UBTF	chr6:31697157-31698357	K562	blood:	n/a	n/a
50	POLR2A	chr6:31697088-31698335	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31697530-31697580	SK-N-MC	brain:	n/a
2	chr6:31697545-31697595	HRE	kidney:	n/a
3	chr6:31697545-31697595	ECC-1	luminal epithelium:	n/a
4	chr6:31697545-31697595	AG09309	skin:	n/a
5	chr6:31697530-31697580	AG10803	skin:	n/a
6	chr6:31697530-31697580	HCM	heart:	n/a
7	chr6:31697545-31697595	HPAEpiC	pulmonary alveolar:	n/a
8	chr6:31697530-31697580	MCF-7	breast:	n/a
9	chr6:31697545-31697595	NB4	blood:	n/a
10	chr6:31697545-31697595	GM12878	blood:	n/a
11	chr6:31697545-31697595	HEEpiC	esophagus:	n/a
12	chr6:31697530-31697580	NHBE	bronchial:	n/a
13	chr6:31697545-31697595	HNPCEpiC	eye:	n/a
14	chr6:31697545-31697595	RPTEC	kidney:	n/a
15	chr6:31697545-31697595	NH-A	brain:	n/a
16	chr6:31697545-31697595	GM12891	blood:	n/a
17	chr6:31697545-31697595	H1-hESC	embryonic stem cell:	embryo
18	chr6:31697530-31697580	AoSMC	blood vessel:	n/a
19	chr6:31697545-31697595	T-47D	breast:	n/a
20	chr6:31697545-31697595	HMEC	breast:	n/a
21	chr6:31697530-31697580	SAEC	small airway:	n/a
22	chr6:31697530-31697580	BE2_C	brain:	n/a
23	chr6:31697530-31697580	LNCaP	prostate:	n/a
24	chr6:31697530-31697580	MCF10A-Er-Src	breast:	n/a
25	chr6:31697530-31697580	HPAEpiC	pulmonary alveolar:	n/a
26	chr6:31697530-31697580	HRPEpiC	eye:	n/a
27	chr6:31697530-31697580	HNPCEpiC	eye:	n/a
28	chr6:31697545-31697595	AG04450	lung:	fetal
29	chr6:31697545-31697595	MCF10A-Er-Src	breast:	n/a
30	chr6:31697530-31697580	AG04450	lung:	fetal
31	chr6:31697545-31697595	SKMC	muscle:	n/a
32	chr6:31697545-31697595	HRCEpiC	kidney:	n/a
33	chr6:31697545-31697595	PFSK-1	brain:	n/a
34	chr6:31697530-31697580	AG09319	gingival:	n/a
35	chr6:31697530-31697580	HRCEpiC	kidney:	n/a
36	chr6:31697530-31697580	Hela-S3	cervix:	n/a
37	chr6:31697530-31697580	IMR90	lung:	fetal
38	chr6:31697545-31697595	NT2-D1	testis:	n/a
39	chr6:31697530-31697580	A549	lung:	n/a
40	chr6:31697530-31697580	SK-N-SH_RA	brain:	n/a
41	chr6:31697530-31697580	BJ	skin:	n/a
42	chr6:31697530-31697580	Caco-2	colon:	n/a
43	chr6:31697545-31697595	ProgFib	skin:	n/a
44	chr6:31697530-31697580	CMK	blood:	n/a
45	chr6:31697530-31697580	HCPEpiC	choroid plexus:	n/a
46	chr6:31697530-31697580	NT2-D1	testis:	n/a
47	chr6:31697545-31697595	PrEC	prostate:	n/a
48	chr6:31697545-31697595	U87	brain:	n/a
49	chr6:31697545-31697595	Hela-S3	cervix:	n/a
50	chr6:31697530-31697580	RPTEC	kidney:	n/a

(count:15 , 50 per page) page: 1

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	chr6:31506561..31512642-chr6:31697539..31702106,5	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:

No data

Variant related genes	Relation type
DDAH2	TF binding region
DDAH2	CpG island
ENSG00000201555	Chromatin interaction
ENSG00000201754	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000120738	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000204394	Chromatin interaction
ENSG00000204428	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000266776	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000204396	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000204427	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs385306	0.97[ASN][1000 genomes]
rs707928	0.83[EUR][1000 genomes]
rs805285	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs805286	0.95[ASN][1000 genomes]
rs805287	0.81[ASN][1000 genomes]
rs805293	0.83[AFR][1000 genomes]
rs805294	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805304	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805305	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs707916	AIF1	Cis_1M	lymphoblastoid	RTeQTL
rs707916	CSNK2B	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31694600-31697800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr6:31694800-31698800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:31695000-31699000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:31695400-31697600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:31695400-31698400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:31695600-31698400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr6:31695600-31698400	Active TSS	Fetal Kidney	kidney
8	chr6:31695800-31698200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:31696000-31698200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:31696000-31698400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:31696000-31698400	Active TSS	Aorta	Aorta
12	chr6:31696200-31697600	Flanking Active TSS	Colonic Mucosa	Colon
13	chr6:31696200-31698200	Active TSS	Rectal Smooth Muscle	rectum
14	chr6:31696200-31698400	Active TSS	Colon Smooth Muscle	Colon
15	chr6:31696400-31697800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:31696400-31697800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr6:31696400-31698200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:31696400-31698200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr6:31696400-31698200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr6:31696400-31698200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr6:31696400-31698200	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr6:31696400-31698400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr6:31696400-31698400	Flanking Active TSS	Fetal Thymus	thymus
24	chr6:31696400-31698400	Active TSS	HSMMtube	muscle
25	chr6:31696600-31697600	Flanking Active TSS	Liver	Liver
26	chr6:31696600-31698200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:31696600-31698200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr6:31696600-31698200	Flanking Active TSS	Pancreas	Pancrea
29	chr6:31696600-31698200	Active TSS	A549	lung
30	chr6:31696600-31698200	Active TSS	NHDF-Ad	bronchial
31	chr6:31696600-31698400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:31696600-31698400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:31696800-31697600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr6:31696800-31697600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:31696800-31697600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr6:31696800-31697600	Flanking Active TSS	Stomach Mucosa	stomach
37	chr6:31696800-31697800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr6:31696800-31698000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:31696800-31698000	Active TSS	Placenta Amnion	Placenta Amnion
40	chr6:31696800-31698000	Active TSS	Thymus	Thymus
41	chr6:31696800-31698000	Active TSS	NHLF	lung
42	chr6:31696800-31698200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:31696800-31698200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr6:31696800-31698200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr6:31696800-31698200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr6:31696800-31698200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr6:31696800-31698200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:31696800-31698200	Active TSS	Lung	lung
49	chr6:31696800-31698200	Flanking Active TSS	Dnd41	blood
50	chr6:31696800-31698400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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