Variant report

Variant	rs6469721
Chromosome Location	chr8:119124569-119124570
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:119123936-119125165	HCT-116	colon:	n/a	n/a
2	MAX	chr8:119123966-119124569	K562	blood:	n/a	n/a
3	RAD21	chr8:119121921-119124581	IMR90	lung:	n/a	n/a
4	MXI1	chr8:119123015-119124606	HepG2	liver:	n/a	chr8:119124299-119124308
5	CHD1	chr8:119124189-119124712	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr8:119123963-119124588	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr8:119123145-119124677	GM19193	blood:	n/a	n/a
8	MAX	chr8:119123607-119124682	MCF-7	breast:	n/a	n/a
9	SMC3	chr8:119122809-119125558	Hela-S3	cervix:	n/a	n/a
10	SMARCB1	chr8:119122020-119124888	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr8:119123653-119124601	GM12892	blood:	n/a	n/a
12	POLR2A	chr8:119122946-119124604	Hela-S3	cervix:	n/a	n/a
13	REST	chr8:119122741-119125044	H1-neurons	neurons:	n/a	chr8:119124110-119124117
14	POLR2A	chr8:119123599-119125623	Hela-S3	cervix:	n/a	n/a
15	HCFC1	chr8:119121782-119124708	Hela-S3	cervix:	n/a	n/a
16	JUND	chr8:119123345-119124671	H1-hESC	embryonic stem cell:	n/a	chr8:119124170-119124179
17	MAX	chr8:119121842-119124585	A549	lung:	n/a	n/a
18	MAZ	chr8:119122672-119126306	IMR90	lung:	n/a	chr8:119125753-119125764 chr8:119125057-119125066
19	POLR2A	chr8:119122800-119125674	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr8:119123701-119124574	MCF-7	breast:	n/a	n/a
21	CREB1	chr8:119123695-119124594	A549	lung:	n/a	n/a
22	POLR2A	chr8:119123791-119124630	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr8:119123807-119125645	PFSK-1	brain:	n/a	n/a
24	TAF1	chr8:119123925-119124691	H1-hESC	embryonic stem cell:	n/a	n/a
25	RCOR1	chr8:119123397-119124596	K562	blood:	n/a	n/a
26	POLR2A	chr8:119123748-119124608	GM12878	blood:	n/a	n/a
27	POLR2A	chr8:119123252-119124730	HepG2	liver:	n/a	n/a
28	RAD21	chr8:119119998-119126465	SK-N-SH	brain:	n/a	chr8:119125772-119125782
29	POLR2A	chr8:119123372-119124640	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr8:119124057-119124688	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr8:119123689-119124648	HUVEC	blood vessel:	n/a	n/a
32	TBP	chr8:119123092-119124681	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr8:119123687-119124667	GM18951	blood:	n/a	n/a
34	POLR2A	chr8:119123825-119124577	A549	lung:	n/a	n/a
35	TCF7L2	chr8:119123927-119124579	HCT-116	colon:	n/a	n/a
36	RCOR1	chr8:119123001-119124582	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr8:119123797-119124569	GM12878	blood:	n/a	n/a
38	CHD1	chr8:119124121-119124642	GM12878	blood:	n/a	n/a
39	POLR2A	chr8:119123751-119124602	GM12892	blood:	n/a	n/a
40	POLR2A	chr8:119123275-119125122	GM12891	blood:	n/a	n/a
41	GABPA	chr8:119123794-119124593	MCF-7	breast:	n/a	n/a
42	POLR2A	chr8:119123833-119124588	GM18526	blood:	n/a	n/a
43	POLR2A	chr8:119123736-119124621	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr8:119119438-119125957	IMR90	lung:	n/a	n/a
45	POLR2A	chr8:119119294-119125259	U87	brain:	n/a	n/a
46	SIN3A	chr8:119120824-119124690	H1-hESC	embryonic stem cell:	n/a	chr8:119122052-119122063
47	POLR2A	chr8:119123499-119125180	Raji	blood:	n/a	n/a
48	POLR2A	chr8:119121745-119125796	HepG2	liver:	n/a	n/a
49	POLR2A	chr8:119123629-119124631	MCF-7	breast:	n/a	n/a
50	POLR2A	chr8:119121561-119125538	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:12912250..12913144-chr8:119123766..119124613,2	Hela-S3	cervix:
2	chr17:41465753..41466267-chr8:119124188..119124953,2	Hela-S3	cervix:
3	chr15:77713135..77713891-chr8:119123894..119124590,2	HCT-116	colon:
4	chr17:56708655..56709492-chr8:119124090..119124620,2	HCT-116	colon:
5	chr8:119124512..119125012-chr8:145596006..145596638,2	MCF-7	breast:
6	chr8:119120329..119122682-chr8:119122926..119125583,4	MCF-7	breast:
7	chr2:128051192..128051755-chr8:119124057..119124776,2	HCT-116	colon:
8	chr19:58873423..58874309-chr8:119124024..119124607,2	Hela-S3	cervix:
9	chr8:119124285..119125855-chr8:119134931..119136550,3	K562	blood:
10	chr11:10830483..10831166-chr8:119123692..119124582,2	Hela-S3	cervix:
11	chr8:119124285..119125818-chr8:119134931..119136512,2	K562	blood:

No data

Variant related genes	Relation type
EXT1	TF binding region
ENSG00000110321	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000163161	Chromatin interaction
ENSG00000269054	Chromatin interaction
ENSG00000140382	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000167815	Chromatin interaction
ENSG00000268230	Chromatin interaction
ENSG00000182197	Chromatin interaction
ENSG00000246308	Chromatin interaction
ENSG00000174586	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10755915	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10808492	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10808494	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955855	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955856	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12548404	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12675013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13270513	1.00[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap]
rs1811528	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3757991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4876400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4876791	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6469722	0.83[ASN][1000 genomes]
rs6991511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6993268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7008536	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7010382	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7011384	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7014053	1.00[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7818011	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7835605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835956	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837824	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs897828	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs897830	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	esv3340875	chr8:119122996-119125544	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
10	esv3346788	chr8:119123071-119125569	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119118800-119124800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:119118800-119125000	Active TSS	Aorta	Aorta
3	chr8:119119000-119124600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr8:119119000-119125000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr8:119119800-119124600	Active TSS	Brain Angular Gyrus	brain
6	chr8:119120000-119125000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:119120200-119124600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:119120200-119124600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:119120200-119124600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:119120200-119124600	Active TSS	Colonic Mucosa	Colon
11	chr8:119120200-119124600	Active TSS	Fetal Intestine Large	intestine
12	chr8:119120200-119124600	Active TSS	Fetal Stomach	stomach
13	chr8:119120200-119124600	Active TSS	HSMM	muscle
14	chr8:119120200-119124800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr8:119120200-119124800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr8:119120200-119124800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:119120200-119124800	Active TSS	Right Atrium	heart
18	chr8:119120200-119124800	Active TSS	Right Ventricle	heart
19	chr8:119120200-119124800	Active TSS	HSMMtube	muscle
20	chr8:119120400-119124600	Active TSS	Rectal Smooth Muscle	rectum
21	chr8:119120400-119124600	Active TSS	Stomach Mucosa	stomach
22	chr8:119120400-119124600	Active TSS	HMEC	breast
23	chr8:119120600-119124800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr8:119120600-119124800	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr8:119120600-119124800	Active TSS	Small Intestine	intestine
26	chr8:119120600-119124800	Active TSS	A549	lung
27	chr8:119120800-119124600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:119120800-119124600	Active TSS	Esophagus	oesophagus
29	chr8:119120800-119124800	Active TSS	Colon Smooth Muscle	Colon
30	chr8:119120800-119124800	Active TSS	Placenta Amnion	Placenta Amnion
31	chr8:119121000-119124600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:119121000-119124600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:119121400-119124600	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr8:119121600-119124600	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr8:119121600-119124600	Active TSS	Fetal Kidney	kidney
36	chr8:119121600-119124600	Bivalent/Poised TSS	HepG2	liver
37	chr8:119121600-119124800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr8:119122200-119124600	Active TSS	Fetal Muscle Leg	muscle
39	chr8:119122200-119124600	Active TSS	Stomach Smooth Muscle	stomach
40	chr8:119122400-119124600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:119122400-119124600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:119122400-119124600	Active TSS	Brain Cingulate Gyrus	brain
43	chr8:119122400-119124800	Active TSS	Ovary	ovary
44	chr8:119122400-119125000	Active TSS	Brain Hippocampus Middle	brain
45	chr8:119122400-119125200	Active TSS	Liver	Liver
46	chr8:119122600-119124600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:119122600-119124600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:119122600-119124600	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr8:119122600-119124600	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr8:119122600-119124600	Active TSS	Cortex derived primary cultured neurospheres	brain

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