Variant report

Variant	rs576531434
Chromosome Location	chr6:29690834-29690835
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr6:29690368-29691781	HEK293-T-REx	kidney:	n/a	chr6:29690503-29690524 chr6:29690535-29690556 chr6:29690559-29690580
2	RXRA	chr6:29690749-29691248	GM12878	blood:	n/a	n/a
3	SP1	chr6:29690661-29691310	A549	lung:	n/a	n/a
4	YY1	chr6:29690806-29691440	GM12891	blood:	n/a	n/a
5	POLR2A	chr6:29690698-29695012	GM18951	blood:	n/a	n/a
6	POLR2A	chr6:29690658-29699867	GM12891	blood:	n/a	n/a
7	TAF1	chr6:29690676-29692001	GM12878	blood:	n/a	n/a
8	BHLHE40	chr6:29690753-29691354	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:29690711-29694858	GM19099	blood:	n/a	n/a
10	ELF1	chr6:29690755-29692210	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:29690629-29692386	GM12892	blood:	n/a	n/a
12	TAF1	chr6:29690782-29691368	GM12892	blood:	n/a	n/a
13	RFX5	chr6:29690604-29692339	H1-hESC	embryonic stem cell:	n/a	n/a
14	EP300	chr6:29690751-29691575	GM12878	blood:	n/a	n/a
15	STAT5A	chr6:29690608-29692291	GM12878	blood:	n/a	n/a
16	RELA	chr6:29690746-29691864	GM19193	blood:	n/a	n/a
17	BATF	chr6:29690673-29691059	GM12878	blood:	n/a	n/a
18	FOXM1	chr6:29690741-29691400	GM12878	blood:	n/a	n/a
19	NFIC	chr6:29690682-29691475	GM12878	blood:	n/a	n/a
20	MTA3	chr6:29690560-29692415	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:29690773-29692323	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:29690792-29691970	Raji	blood:	n/a	n/a
23	CREB1	chr6:29690747-29691492	GM12878	blood:	n/a	n/a
24	YY1	chr6:29690698-29692023	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:29690692-29694256	GM12892	blood:	n/a	n/a
26	SP1	chr6:29690643-29691292	GM12878	blood:	n/a	n/a
27	RELA	chr6:29690780-29691310	GM18526	blood:	n/a	n/a
28	POLR2A	chr6:29690575-29695009	GM12878	blood:	n/a	n/a
29	POLR2A	chr6:29690785-29699707	GM12878	blood:	n/a	n/a
30	SP1	chr6:29690678-29691932	GM12878	blood:	n/a	n/a
31	MAX	chr6:29690778-29692207	GM12878	blood:	n/a	n/a
32	STAT1	chr6:29690687-29691222	GM12878	blood:	n/a	n/a
33	RELA	chr6:29690686-29691993	GM15510	blood:	n/a	n/a
34	EBF1	chr6:29690575-29692170	GM12878	blood:	n/a	chr6:29690978-29690989
35	CHD2	chr6:29690678-29692171	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:29690763-29691873	GM12891	blood:	n/a	n/a
37	MXI1	chr6:29690674-29691378	GM12878	blood:	n/a	n/a
38	ELF1	chr6:29690688-29691524	GM12878	blood:	n/a	n/a
39	ZNF143	chr6:29690735-29691915	GM12878	blood:	n/a	n/a
40	POLR2A	chr6:29690681-29699847	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:29690663-29692513	GM12878	blood:	n/a	n/a
42	WRNIP1	chr6:29690691-29691761	GM12878	blood:	n/a	n/a
43	TAF1	chr6:29690834-29691428	GM12891	blood:	n/a	n/a
44	RELA	chr6:29690799-29691409	GM12892	blood:	n/a	n/a
45	POLR2A	chr6:29690708-29699614	GM18505	blood:	n/a	n/a
46	RELA	chr6:29690661-29691312	GM18951	blood:	n/a	n/a
47	POLR2A	chr6:29690566-29699452	GM12892	blood:	n/a	n/a
48	RELA	chr6:29690757-29691975	GM10847	blood:	n/a	n/a
49	POU2F2	chr6:29690706-29691424	GM12891	blood:	n/a	n/a
50	POLR2A	chr6:29690657-29697457	GM12892	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29690822-29690872	ECC-1	luminal epithelium:	n/a
2	chr6:29690822-29690872	GM12878	blood:	n/a
3	chr6:29690822-29690872	AG09319	gingival:	n/a
4	chr6:29690822-29690872	AG04450	lung:	fetal
5	chr6:29690822-29690872	AoSMC	blood vessel:	n/a
6	chr6:29690822-29690872	A549	lung:	n/a
7	chr6:29690822-29690872	NT2-D1	testis:	n/a
8	chr6:29690822-29690872	PANC-1	pancreas:	n/a
9	chr6:29690822-29690872	HUVEC	blood vessel:	n/a
10	chr6:29690822-29690872	SKMC	muscle:	n/a
11	chr6:29690822-29690872	SK-N-MC	brain:	n/a
12	chr6:29690822-29690872	MCF-7	breast:	n/a
13	chr6:29690822-29690872	HAEpiC	amniotic membrane:	n/a
14	chr6:29690822-29690872	AG09309	skin:	n/a
15	chr6:29690822-29690872	HL-60	blood:	n/a
16	chr6:29690822-29690872	AG10803	skin:	n/a
17	chr6:29690822-29690872	ovcar-3	ovarian:	n/a
18	chr6:29690822-29690872	BE2_C	brain:	n/a
19	chr6:29690822-29690872	HPAEpiC	pulmonary alveolar:	n/a
20	chr6:29690822-29690872	MCF10A-Er-Src	breast:	n/a
21	chr6:29690822-29690872	T-47D	breast:	n/a
22	chr6:29690822-29690872	NB4	blood:	n/a
23	chr6:29690822-29690872	Hepatocyte	liver:	n/a
24	chr6:29690822-29690872	GM19239	blood:	n/a
25	chr6:29690822-29690872	IMR90	lung:	fetal
26	chr6:29690822-29690872	Caco-2	colon:	n/a
27	chr6:29690822-29690872	AG04449	skin:	fetal
28	chr6:29690822-29690872	HRCEpiC	kidney:	n/a
29	chr6:29690822-29690872	HRPEpiC	eye:	n/a
30	chr6:29690822-29690872	NHDF-neo	bronchial:	n/a
31	chr6:29690822-29690872	NH-A	brain:	n/a
32	chr6:29690822-29690872	HCT-116	colon:	n/a
33	chr6:29690822-29690872	U87	brain:	n/a
34	chr6:29690822-29690872	SK-N-SH	brain:	n/a
35	chr6:29690822-29690872	K562	blood:	n/a
36	chr6:29690822-29690872	PrEC	prostate:	n/a
37	chr6:29690822-29690872	Hela-S3	cervix:	n/a
38	chr6:29690822-29690872	HCF	heart:	n/a
39	chr6:29690822-29690872	HCPEpiC	choroid plexus:	n/a
40	chr6:29690822-29690872	GM06990	blood:	n/a
41	chr6:29690822-29690872	LNCaP	prostate:	n/a
42	chr6:29690822-29690872	GM12891	blood:	n/a
43	chr6:29690822-29690872	RPTEC	kidney:	n/a
44	chr6:29690822-29690872	HepG2	liver:	n/a
45	chr6:29690822-29690872	PFSK-1	brain:	n/a
46	chr6:29690822-29690872	HEEpiC	esophagus:	n/a
47	chr6:29690822-29690872	SAEC	small airway:	n/a
48	chr6:29690822-29690872	HEK293	kidney:	embryo
49	chr6:29690822-29690872	H1-hESC	embryonic stem cell:	embryo
50	chr6:29690822-29690872	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29689319..29693460-chr6:29694038..29698697,5	MCF-7	breast:
2	chr6:29689852..29692667-chr6:31324164..31326641,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFP57-11	chr6:29690758-29691748	NONHSAT108540

No data

Variant related genes	Relation type
HLA-F	TF binding region
HLA-F	CpG island
ENSG00000234745	Chromatin interaction
ENSG00000239257	Chromatin interaction
ENSG00000271581	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20940	chr6:29653954-29923410	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv970675	chr6:29657036-29692268	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv428475	chr6:29659525-29763392	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv428139	chr6:29659525-29892317	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv508397	chr6:29663132-29761448	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	esv1821077	chr6:29670915-29726207	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1794141	chr6:29670915-29765814	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv462673	chr6:29689590-29700183	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv601230	chr6:29689590-29700183	Flanking Active TSS Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv2291610	chr6:29690346-29690843	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29690000-29691200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
2	chr6:29690000-29692000	Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr6:29690000-29692000	Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr6:29690000-29692200	Active TSS	GM12878-XiMat	blood
5	chr6:29690200-29691200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr6:29690200-29692000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr6:29690400-29691000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:29690400-29691200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:29690400-29691800	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
10	chr6:29690400-29692000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr6:29690400-29692000	Active TSS	Primary T cells fromperipheralblood	blood
12	chr6:29690400-29692000	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr6:29690400-29692000	Active TSS	Brain Anterior Caudate	brain
14	chr6:29690400-29692000	Active TSS	Duodenum Mucosa	Duodenum
15	chr6:29690400-29692600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr6:29690400-29692800	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr6:29690600-29691000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr6:29690600-29691000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr6:29690600-29691000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
20	chr6:29690600-29691000	Active TSS	Psoas Muscle	Psoas
21	chr6:29690600-29691000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
22	chr6:29690600-29691000	Flanking Active TSS	Thymus	Thymus
23	chr6:29690600-29691000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr6:29690600-29691000	Flanking Active TSS	NHEK	skin
25	chr6:29690600-29691200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr6:29690600-29691200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:29690600-29691200	Bivalent/Poised TSS	Placenta	Placenta
28	chr6:29690600-29691200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
29	chr6:29690600-29691200	Active TSS	NH-A	brain
30	chr6:29690600-29691400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:29690600-29691400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:29690600-29691400	Active TSS	Colonic Mucosa	Colon
33	chr6:29690600-29691400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr6:29690600-29691400	Active TSS	Right Ventricle	heart
35	chr6:29690600-29691400	Active TSS	HMEC	breast
36	chr6:29690600-29691400	Active TSS	NHLF	lung
37	chr6:29690600-29691600	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr6:29690600-29691800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:29690600-29692000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:29690600-29692000	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr6:29690600-29692000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:29690600-29692000	Active TSS	Brain Angular Gyrus	brain
43	chr6:29690600-29692000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:29690600-29692000	Active TSS	Brain Substantia Nigra	brain
45	chr6:29690600-29692000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
46	chr6:29690600-29692000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr6:29690600-29692000	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr6:29690600-29692000	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr6:29690600-29692000	Active TSS	Stomach Smooth Muscle	stomach
50	chr6:29690600-29692000	Active TSS	A549	lung

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