Variant report

Variant	rs6902761
Chromosome Location	chr6:33180963-33180964
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:100)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:100 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33180949-33181501	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr6:33180930-33181217	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr6:33180870-33181327	A549	lung:	n/a	n/a
4	CTBP2	chr6:33180722-33182006	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:33180639-33181849	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr6:33180261-33181882	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr6:33180723-33182369	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:33180656-33181859	GM12891	blood:	n/a	n/a
9	POLR2A	chr6:33180227-33181783	GM12892	blood:	n/a	n/a
10	TCF7L2	chr6:33180951-33181304	PANC-1	pancreas:	n/a	n/a
11	TEAD4	chr6:33180804-33181568	SK-N-SH	brain:	n/a	n/a
12	PBX3	chr6:33180623-33181768	SK-N-SH	brain:	n/a	chr6:33181511-33181522
13	POLR2A	chr6:33180818-33181970	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:33180871-33181254	HCT-116	colon:	n/a	n/a
15	POLR2A	chr6:33180700-33181338	U87	brain:	n/a	n/a
16	POLR2A	chr6:33180907-33181269	Raji	blood:	n/a	n/a
17	POLR2A	chr6:33180746-33181831	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr6:33180918-33181657	GM19193	blood:	n/a	n/a
19	ZMIZ1	chr6:33180932-33181016	K562	blood:	n/a	n/a
20	POLR2A	chr6:33180614-33181878	K562	blood:	n/a	n/a
21	POLR2A	chr6:33180580-33181206	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr6:33180690-33181348	GM12892	blood:	n/a	n/a
23	SIN3AK20	chr6:33180911-33181306	SK-N-SH	brain:	n/a	n/a
24	ELF1	chr6:33180919-33181690	MCF-7	breast:	n/a	chr6:33181296-33181307 chr6:33181295-33181308 chr6:33181297-33181308
25	POLR2A	chr6:33180345-33183166	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr6:33180312-33181646	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr6:33180716-33181338	U87	brain:	n/a	n/a
28	POLR2A	chr6:33180847-33181304	A549	lung:	n/a	n/a
29	POLR2A	chr6:33180694-33181404	HepG2	liver:	n/a	n/a
30	POLR2A	chr6:33180668-33181731	SK-N-SH	brain:	n/a	n/a
31	PML	chr6:33180727-33181270	GM12878	blood:	n/a	n/a
32	CCNT2	chr6:33180904-33181234	K562	blood:	n/a	n/a
33	CHD2	chr6:33180932-33181215	H1-hESC	embryonic stem cell:	n/a	n/a
34	MTA3	chr6:33180840-33181884	GM12878	blood:	n/a	n/a
35	POLR2A	chr6:33180162-33183153	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr6:33180910-33181299	A549	lung:	n/a	n/a
37	POLR2A	chr6:33180826-33181453	GM18505	blood:	n/a	n/a
38	ELF1	chr6:33180919-33181634	GM12878	blood:	n/a	chr6:33181296-33181307 chr6:33181295-33181308 chr6:33181297-33181308
39	POLR2A	chr6:33180774-33181923	HL-60	blood:	n/a	n/a
40	POLR2A	chr6:33180643-33181043	GM12892	blood:	n/a	n/a
41	PBX3	chr6:33180699-33181811	SK-N-SH	brain:	n/a	chr6:33181511-33181522
42	POLR2A	chr6:33180924-33181240	HepG2	liver:	n/a	n/a
43	POLR2A	chr6:33178928-33182442	K562	blood:	n/a	n/a
44	ELF1	chr6:33180887-33181546	GM12878	blood:	n/a	chr6:33181296-33181307 chr6:33181295-33181308 chr6:33181297-33181308
45	POLR2A	chr6:33180796-33181933	GM12878	blood:	n/a	n/a
46	NFATC1	chr6:33180878-33181499	GM12878	blood:	n/a	n/a
47	USF2	chr6:33180702-33181188	Hela-S3	cervix:	n/a	n/a
48	MAX	chr6:33180778-33181309	H1-hESC	embryonic stem cell:	n/a	chr6:33181169-33181179
49	BCL3	chr6:33180671-33181212	A549	lung:	n/a	chr6:33181012-33181025
50	POLR2A	chr6:33180802-33181318	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33180930-33180980	BE2_C	brain:	n/a
2	chr6:33180930-33180980	HPAEpiC	pulmonary alveolar:	n/a
3	chr6:33180930-33180980	HAEpiC	amniotic membrane:	n/a
4	chr6:33180930-33180980	HCPEpiC	choroid plexus:	n/a
5	chr6:33180930-33180980	HUVEC	blood vessel:	n/a
6	chr6:33180930-33180980	NHDF-neo	bronchial:	n/a
7	chr6:33180930-33180980	HCF	heart:	n/a
8	chr6:33180930-33180980	PrEC	prostate:	n/a
9	chr6:33180930-33180980	PFSK-1	brain:	n/a
10	chr6:33180930-33180980	AG04449	skin:	fetal
11	chr6:33180930-33180980	GM06990	blood:	n/a
12	chr6:33180930-33180980	HRCEpiC	kidney:	n/a
13	chr6:33180930-33180980	HRE	kidney:	n/a
14	chr6:33180930-33180980	HMEC	breast:	n/a
15	chr6:33180930-33180980	HIPEpiC	eye:	n/a
16	chr6:33180930-33180980	PANC-1	pancreas:	n/a
17	chr6:33180930-33180980	HepG2	liver:	n/a
18	chr6:33180930-33180980	MCF-7	breast:	n/a
19	chr6:33180930-33180980	SAEC	small airway:	n/a
20	chr6:33180930-33180980	SKMC	muscle:	n/a
21	chr6:33180930-33180980	ProgFib	skin:	n/a
22	chr6:33180930-33180980	AG04450	lung:	fetal
23	chr6:33180930-33180980	GM12878	blood:	n/a
24	chr6:33180930-33180980	HNPCEpiC	eye:	n/a
25	chr6:33180930-33180980	AG09309	skin:	n/a
26	chr6:33180930-33180980	LNCaP	prostate:	n/a
27	chr6:33180930-33180980	NT2-D1	testis:	n/a
28	chr6:33180930-33180980	NHBE	bronchial:	n/a
29	chr6:33180930-33180980	Jurkat	blood:	n/a
30	chr6:33180930-33180980	ovcar-3	ovarian:	n/a
31	chr6:33180930-33180980	BJ	skin:	n/a
32	chr6:33180930-33180980	AoSMC	blood vessel:	n/a
33	chr6:33180930-33180980	K562	blood:	n/a
34	chr6:33180930-33180980	A549	lung:	n/a
35	chr6:33180930-33180980	H1-hESC	embryonic stem cell:	embryo
36	chr6:33180930-33180980	IMR90	lung:	fetal
37	chr6:33180930-33180980	NH-A	brain:	n/a
38	chr6:33180930-33180980	HEK293	kidney:	embryo
39	chr6:33180930-33180980	GM19239	blood:	n/a
40	chr6:33180930-33180980	RPTEC	kidney:	n/a
41	chr6:33180930-33180980	SK-N-SH	brain:	n/a
42	chr6:33180930-33180980	HL-60	blood:	n/a
43	chr6:33180930-33180980	Hepatocyte	liver:	n/a
44	chr6:33180930-33180980	MCF10A-Er-Src	breast:	n/a
45	chr6:33180930-33180980	AG10803	skin:	n/a
46	chr6:33180930-33180980	HRPEpiC	eye:	n/a
47	chr6:33180930-33180980	T-47D	breast:	n/a
48	chr6:33180930-33180980	GM12891	blood:	n/a
49	chr6:33180930-33180980	CMK	blood:	n/a
50	chr6:33180930-33180980	HEEpiC	esophagus:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33179221..33182443-chr6:33193409..33196086,3	K562	blood:
2	chr6:33170516..33184004-chr6:33208467..33219908,34	K562	blood:
3	chr17:57919236..57921403-chr6:33180751..33183116,2	MCF-7	breast:
4	chr6:33151686..33153252-chr6:33179550..33181770,2	MCF-7	breast:
5	chr6:33164650..33184503-chr6:33230350..33245922,64	K562	blood:
6	chr6:33172848..33181857-chr6:33213902..33220839,20	K562	blood:
7	chr6:33165702..33182742-chr6:33234718..33250379,54	K562	blood:
8	chr6:33143772..33147825-chr6:33178882..33183070,5	K562	blood:
9	chr6:32935744..32938030-chr6:33179589..33181147,2	K562	blood:

No data

Variant related genes	Relation type
ZNF70P1	TF binding region
ZNF70P1	CpG island
ENSG00000223837	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000232940	Chromatin interaction
ENSG00000204248	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000204257	Chromatin interaction
ENSG00000272217	Chromatin interaction
ENSG00000231500	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs61447009	1.00[AMR][1000 genomes]
rs61737694	1.00[AMR][1000 genomes]
rs6909412	1.00[AMR][1000 genomes]
rs6923740	1.00[AMR][1000 genomes]
rs6929135	1.00[AMR][1000 genomes]
rs7754065	1.00[AMR][1000 genomes]
rs7754284	1.00[AMR][1000 genomes]
rs7758114	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462893	chr6:33142539-33256471	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv602830	chr6:33142539-33256471	Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv885768	chr6:33155225-33182870	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
5	nsv522719	chr6:33163451-33182895	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv462894	chr6:33174783-33254665	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
7	nsv602831	chr6:33174783-33254665	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33179000-33181600	Weak transcription	Hela-S3	cervix
2	chr6:33179000-33181600	Weak transcription	K562	blood
3	chr6:33179800-33181000	Weak transcription	Lung	lung
4	chr6:33180200-33181000	Bivalent Enhancer	Placenta	Placenta
5	chr6:33180200-33181000	Enhancers	Spleen	Spleen
6	chr6:33180200-33181200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:33180400-33181000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr6:33180400-33181000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:33180400-33181000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr6:33180400-33181000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:33180400-33181000	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr6:33180400-33181400	Enhancers	Small Intestine	intestine
13	chr6:33180400-33181800	Enhancers	Liver	Liver
14	chr6:33180400-33182200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:33180600-33181000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
16	chr6:33180600-33181000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr6:33180600-33181000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:33180600-33181000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr6:33180600-33181000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
20	chr6:33180600-33181000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:33180600-33181000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr6:33180600-33181000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:33180600-33181000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:33180600-33181000	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr6:33180600-33181000	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr6:33180600-33181000	Flanking Active TSS	Fetal Heart	heart
27	chr6:33180600-33181000	Flanking Active TSS	Fetal Lung	lung
28	chr6:33180600-33181000	Active TSS	Psoas Muscle	Psoas
29	chr6:33180600-33181000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr6:33180600-33181000	Active TSS	NHLF	lung
31	chr6:33180600-33181200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr6:33180600-33181400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr6:33180600-33181400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr6:33180600-33181400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr6:33180600-33181600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr6:33180600-33181600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr6:33180600-33181600	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr6:33180600-33181600	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr6:33180600-33181800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr6:33180600-33181800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:33180600-33181800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:33180600-33181800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:33180600-33181800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
44	chr6:33180600-33181800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
45	chr6:33180600-33181800	Flanking Active TSS	NH-A	brain
46	chr6:33180600-33181800	Active TSS	NHDF-Ad	bronchial
47	chr6:33180600-33182000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
48	chr6:33180600-33182000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:33180600-33182000	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr6:33180600-33182000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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