Variant report

Variant	rs567777751
Chromosome Location	chr6:29942706-29942707
allele	-/CTGCGGTGGT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr6:29942558-29943168	H1-hESC	embryonic stem cell:	n/a	chr6:29942794-29942813
2	E2F6	chr6:29942686-29943660	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:29942628-29942801	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:29936914-29943239	K562	blood:	n/a	n/a
5	SIN3A	chr6:29942645-29943161	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29942706-29942756	IMR90	lung:	fetal
2	chr6:29942706-29942756	PrEC	prostate:	n/a
3	chr6:29942706-29942756	GM12878	blood:	n/a
4	chr6:29942706-29942756	HRCEpiC	kidney:	n/a
5	chr6:29942706-29942756	Hela-S3	cervix:	n/a
6	chr6:29942706-29942756	GM19239	blood:	n/a
7	chr6:29942706-29942756	GM06990	blood:	n/a
8	chr6:29942706-29942756	Caco-2	colon:	n/a
9	chr6:29942706-29942756	HAEpiC	amniotic membrane:	n/a
10	chr6:29942706-29942756	AG04450	lung:	fetal
11	chr6:29942706-29942756	Hepatocyte	liver:	n/a
12	chr6:29942706-29942756	LNCaP	prostate:	n/a
13	chr6:29942706-29942756	HUVEC	blood vessel:	n/a
14	chr6:29942706-29942756	SAEC	small airway:	n/a
15	chr6:29942706-29942756	NT2-D1	testis:	n/a
16	chr6:29942706-29942756	MCF-7	breast:	n/a
17	chr6:29942706-29942756	SK-N-MC	brain:	n/a
18	chr6:29942706-29942756	HEK293	kidney:	embryo
19	chr6:29942706-29942756	AG09319	gingival:	n/a
20	chr6:29942706-29942756	CMK	blood:	n/a
21	chr6:29942706-29942756	HepG2	liver:	n/a
22	chr6:29942706-29942756	ovcar-3	ovarian:	n/a
23	chr6:29942706-29942756	HCF	heart:	n/a
24	chr6:29942706-29942756	HEEpiC	esophagus:	n/a
25	chr6:29942706-29942756	HL-60	blood:	n/a
26	chr6:29942706-29942756	SK-N-SH_RA	brain:	n/a
27	chr6:29942706-29942756	A549	lung:	n/a
28	chr6:29942706-29942756	GM12891	blood:	n/a
29	chr6:29942706-29942756	Jurkat	blood:	n/a
30	chr6:29942706-29942756	MCF10A-Er-Src	breast:	n/a
31	chr6:29942706-29942756	AG09309	skin:	n/a
32	chr6:29942706-29942756	BJ	skin:	n/a
33	chr6:29942706-29942756	AoSMC	blood vessel:	n/a
34	chr6:29942706-29942756	HMEC	breast:	n/a
35	chr6:29942706-29942756	ProgFib	skin:	n/a
36	chr6:29942706-29942756	U87	brain:	n/a
37	chr6:29942706-29942756	RPTEC	kidney:	n/a
38	chr6:29942706-29942756	K562	blood:	n/a
39	chr6:29942706-29942756	HCM	heart:	n/a
40	chr6:29942706-29942756	T-47D	breast:	n/a
41	chr6:29942706-29942756	PFSK-1	brain:	n/a
42	chr6:29942706-29942756	HCPEpiC	choroid plexus:	n/a
43	chr6:29942706-29942756	HPAEpiC	pulmonary alveolar:	n/a
44	chr6:29942706-29942756	PANC-1	pancreas:	n/a
45	chr6:29942706-29942756	HNPCEpiC	eye:	n/a
46	chr6:29942706-29942756	HIPEpiC	eye:	n/a
47	chr6:29942706-29942756	NHDF-neo	bronchial:	n/a
48	chr6:29942706-29942756	NHBE	bronchial:	n/a
49	chr6:29942706-29942756	AG04449	skin:	fetal
50	chr6:29942706-29942756	ECC-1	luminal epithelium:	n/a

No data

Variant related genes	Relation type
HCG9	TF binding region
MICD	TF binding region
MICD	CpG island
HCG9	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3441842	chr6:29715749-29942950	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3332677	chr6:29733187-29961463	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	esv3430372	chr6:29759523-29974277	Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv2758040	chr6:29792434-29975144	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv2759412	chr6:29792434-29975144	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv3391180	chr6:29798321-29977430	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	esv1845786	chr6:29817123-29955129	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	esv1848127	chr6:29817323-29966451	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv508398	chr6:29825777-30003403	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	esv3369212	chr6:29827361-29960177	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	esv32544	chr6:29831716-29944103	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	esv2757159	chr6:29834472-29965501	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
14	esv3376588	chr6:29834667-29964324	Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active 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 target site	28 gene(s)	inside rSNPs	diseases
15	nsv10810	chr6:29837465-29961415	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
16	nsv870444	chr6:29842885-29949545	Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
17	esv3373906	chr6:29884407-29977070	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
18	esv2641340	chr6:29913287-29978544	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
19	esv3378806	chr6:29913464-29978179	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
20	esv3496792	chr6:29913818-29977071	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	esv3496793	chr6:29913818-29977071	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv984584	chr6:29932342-29943951	Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
23	nsv1031115	chr6:29934199-30058223	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
24	nsv538172	chr6:29934199-30058223	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
25	esv1799283	chr6:29938777-29959935	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	esv14874	chr6:29941757-29942849	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
27	nsv511347	chr6:29942126-29942857	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
28	esv3350882	chr6:29942373-29945471	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29934400-29944200	Weak transcription	Aorta	Aorta
2	chr6:29935400-29943400	Weak transcription	Small Intestine	intestine
3	chr6:29935600-29944800	Weak transcription	Dnd41	blood
4	chr6:29935800-29942800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:29936000-29942800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:29936400-29943000	Weak transcription	Psoas Muscle	Psoas
7	chr6:29936600-29942800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:29936600-29942800	Weak transcription	HSMMtube	muscle
9	chr6:29936800-29942800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:29937200-29942800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:29937800-29942800	Weak transcription	K562	blood
12	chr6:29938600-29942800	Weak transcription	Colonic Mucosa	Colon
13	chr6:29941600-29944400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:29941800-29943200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr6:29942000-29942800	Enhancers	Pancreas	Pancrea
16	chr6:29942200-29942800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:29942200-29942800	Enhancers	Right Ventricle	heart
18	chr6:29942200-29943400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr6:29942200-29943400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
20	chr6:29942400-29942800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:29942400-29942800	Enhancers	Left Ventricle	heart
22	chr6:29942400-29942800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr6:29942400-29942800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr6:29942400-29943000	Enhancers	Gastric	stomach
25	chr6:29942400-29943000	Enhancers	Lung	lung
26	chr6:29942400-29943000	Enhancers	Right Atrium	heart
27	chr6:29942400-29943000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
28	chr6:29942400-29943600	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr6:29942400-29943600	Flanking Active TSS	Spleen	Spleen
30	chr6:29942600-29942800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr6:29942600-29942800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr6:29942600-29942800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
33	chr6:29942600-29942800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:29942600-29942800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
35	chr6:29942600-29942800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr6:29942600-29942800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:29942600-29942800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
38	chr6:29942600-29942800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:29942600-29942800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr6:29942600-29942800	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr6:29942600-29943000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr6:29942600-29943000	Active TSS	Brain Anterior Caudate	brain
43	chr6:29942600-29943000	Enhancers	Brain Substantia Nigra	brain
44	chr6:29942600-29943000	Enhancers	HepG2	liver
45	chr6:29942600-29943200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:29942600-29943200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
47	chr6:29942600-29943200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr6:29942600-29943200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr6:29942600-29943200	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr6:29942600-29943200	Active TSS	Rectal Smooth Muscle	rectum

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