Variant report

Variant	rs13214831
Chromosome Location	chr6:30731505-30731506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:116)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:116 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30730914-30732454	HepG2	liver:	n/a	n/a
2	EP300	chr6:30731418-30731761	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chr6:30731451-30731778	SK-N-SH_RA	brain:	n/a	n/a
4	POLR2A	chr6:30731138-30732437	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:30731278-30732399	HepG2	liver:	n/a	n/a
6	SP1	chr6:30731127-30731675	A549	lung:	n/a	n/a
7	TBP	chr6:30731255-30731689	GM12878	blood:	n/a	n/a
8	CHD2	chr6:30731256-30731749	GM12878	blood:	n/a	n/a
9	CEBPB	chr6:30731192-30731616	HepG2	liver:	n/a	n/a
10	HEY1	chr6:30730837-30732569	HepG2	liver:	n/a	chr6:30731925-30731940
11	RAD21	chr6:30731249-30732374	HepG2	liver:	n/a	n/a
12	PBX3	chr6:30731438-30731904	SK-N-SH	brain:	n/a	n/a
13	MBD4	chr6:30730857-30732447	HepG2	liver:	n/a	n/a
14	PBX3	chr6:30731344-30732357	SK-N-SH	brain:	n/a	n/a
15	IKZF1	chr6:30731119-30731688	GM12878	blood:	n/a	n/a
16	HNF4A	chr6:30731265-30732341	HepG2	liver:	n/a	chr6:30731601-30731616
17	RELA	chr6:30731229-30731677	GM19193	blood:	n/a	n/a
18	HDAC2	chr6:30731162-30731824	HepG2	liver:	n/a	chr6:30731485-30731499
19	FOXA1	chr6:30731076-30732455	HepG2	liver:	n/a	n/a
20	REST	chr6:30731223-30732382	HepG2	liver:	n/a	n/a
21	FOSL2	chr6:30731180-30732469	HepG2	liver:	n/a	n/a
22	ELK1	chr6:30731331-30731819	GM12878	blood:	n/a	n/a
23	YY1	chr6:30731457-30731785	GM12878	blood:	n/a	n/a
24	SP1	chr6:30731206-30732449	A549	lung:	n/a	n/a
25	MAX	chr6:30731417-30731946	HepG2	liver:	n/a	n/a
26	RELA	chr6:30731134-30731707	GM18951	blood:	n/a	n/a
27	KAP1	chr6:30731322-30732318	HEK293	kidney:	n/a	n/a
28	POLR2A	chr6:30731401-30732396	HUVEC	blood vessel:	n/a	n/a
29	CEBPD	chr6:30731299-30732337	HepG2	liver:	n/a	n/a
30	BHLHE40	chr6:30731252-30731556	GM12878	blood:	n/a	n/a
31	MAZ	chr6:30731119-30732346	HepG2	liver:	n/a	n/a
32	FOXA1	chr6:30731165-30731647	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:30731176-30732362	HepG2	liver:	n/a	n/a
34	EP300	chr6:30731222-30731664	GM12878	blood:	n/a	n/a
35	MAFK	chr6:30731386-30732333	HepG2	liver:	n/a	n/a
36	RELA	chr6:30731204-30731785	GM19099	blood:	n/a	n/a
37	MAFK	chr6:30731332-30731733	HepG2	liver:	n/a	n/a
38	RAD21	chr6:30731201-30732457	HepG2	liver:	n/a	n/a
39	EP300	chr6:30731250-30731573	GM12878	blood:	n/a	n/a
40	CEBPB	chr6:30731260-30731580	HepG2	liver:	n/a	n/a
41	FOXA2	chr6:30730927-30732417	HepG2	liver:	n/a	n/a
42	YY1	chr6:30731505-30731993	H1-hESC	embryonic stem cell:	n/a	chr6:30731925-30731936
43	POLR2A	chr6:30731468-30731727	HepG2	liver:	n/a	n/a
44	TEAD4	chr6:30730955-30732551	HepG2	liver:	n/a	n/a
45	STAT3	chr6:30731095-30731594	GM12878	blood:	n/a	n/a
46	EP300	chr6:30731179-30731688	GM12878	blood:	n/a	n/a
47	POLR2A	chr6:30731489-30732025	ECC-1	luminal epithelium:	n/a	n/a
48	CEBPB	chr6:30731147-30731632	A549	lung:	n/a	n/a
49	MBD4	chr6:30731025-30732474	HepG2	liver:	n/a	n/a
50	NFIC	chr6:30731054-30732447	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30731319..30733794-chr6:30880499..30882436,2	K562	blood:
2	chr6:30688991..30691146-chr6:30731072..30732705,2	K562	blood:
3	chr6:30716396..30719291-chr6:30729856..30732825,2	K562	blood:
4	chr6:30729697..30732019-chr6:30764165..30766889,2	K562	blood:
5	chr6:30721626..30724111-chr6:30729705..30731621,2	K562	blood:
6	chr6:30731381..30733806-chr6:30851379..30853167,2	MCF-7	breast:
7	chr6:30731147..30732913-chr6:30849993..30851974,2	MCF-7	breast:

No data

Variant related genes	Relation type
HCG20	TF binding region
ENSG00000137411	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000263608	Chromatin interaction
ENSG00000204580	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12526186	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527188	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12660860	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12660883	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12662149	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13202739	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13217914	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13220225	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17189441	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17481190	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28670020	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28780111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28780113	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28780114	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28780120	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28780121	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28780122	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28894082	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3869075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4278006	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4713361	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[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	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' 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	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS 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	967 gene(s)	inside rSNPs	diseases
5	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
6	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
8	nsv884100	chr6:30693816-30751326	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
9	nsv884101	chr6:30695920-30733121	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	163 gene(s)	inside rSNPs	diseases
10	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
11	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
12	nsv870418	chr6:30713196-30755668	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv527226	chr6:30716719-30772378	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
14	nsv884103	chr6:30729487-30755668	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13214831	DDR1	cis	lymphoblastoid	seeQTL
rs13214831	ZNF192	cis	cerebellum	SCAN
rs13214831	IP6K3	cis	parietal	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30719800-30731600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr6:30720600-30736600	Weak transcription	Gastric	stomach
3	chr6:30726800-30739000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:30728000-30731600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:30728000-30731600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:30728000-30732800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:30728000-30737000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:30728200-30731600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:30728200-30731600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:30728200-30736400	Weak transcription	Lung	lung
11	chr6:30728200-30736600	Weak transcription	Aorta	Aorta
12	chr6:30729200-30731800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr6:30729600-30731600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:30730400-30732200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr6:30730800-30731800	Enhancers	Hela-S3	cervix
16	chr6:30731000-30731600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:30731000-30731600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr6:30731000-30731800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:30731000-30731800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:30731000-30732000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:30731000-30732200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:30731000-30732200	Enhancers	Fetal Kidney	kidney
23	chr6:30731000-30732200	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr6:30731000-30732200	Enhancers	GM12878-XiMat	blood
25	chr6:30731000-30732400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:30731000-30732400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr6:30731000-30732400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr6:30731000-30732400	Enhancers	Colon Smooth Muscle	Colon
29	chr6:30731000-30732400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr6:30731000-30732400	Flanking Active TSS	A549	lung
31	chr6:30731000-30732400	Flanking Active TSS	HepG2	liver
32	chr6:30731000-30732600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr6:30731000-30732600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:30731000-30732600	Enhancers	Fetal Heart	heart
35	chr6:30731000-30732600	Enhancers	Fetal Intestine Large	intestine
36	chr6:30731000-30732600	Enhancers	Fetal Intestine Small	intestine
37	chr6:30731000-30734600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:30731000-30735600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:30731000-30738800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:30731200-30731600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr6:30731200-30731600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr6:30731200-30731600	Enhancers	NHEK	skin
43	chr6:30731200-30731800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:30731200-30731800	Flanking Active TSS	Liver	Liver
45	chr6:30731200-30732000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr6:30731200-30732000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr6:30731200-30732000	Enhancers	Esophagus	oesophagus
48	chr6:30731200-30732000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr6:30731200-30732000	Enhancers	Pancreas	Pancrea
50	chr6:30731200-30732200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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