Variant report

Variant	rs11989622
Chromosome Location	chr8:6692141-6692142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr8:6692070-6692529	SK-N-SH	brain:	n/a	chr8:6692317-6692339 chr8:6692336-6692347 chr8:6692320-6692328
2	GABPA	chr8:6692003-6692514	SK-N-SH	brain:	n/a	chr8:6692080-6692089 chr8:6692078-6692089
3	POLR2A	chr8:6692054-6693230	Hela-S3	cervix:	n/a	n/a
4	CTBP2	chr8:6691552-6692588	H1-hESC	embryonic stem cell:	n/a	n/a
5	GABPA	chr8:6691991-6692465	H1-hESC	embryonic stem cell:	n/a	chr8:6692080-6692089 chr8:6692078-6692089
6	POLR2A	chr8:6692100-6692476	Hela-S3	cervix:	n/a	n/a
7	YY1	chr8:6692095-6692527	ECC-1	luminal epithelium:	n/a	chr8:6692317-6692339 chr8:6692336-6692347 chr8:6692320-6692328
8	E2F6	chr8:6691980-6693308	A549	lung:	n/a	chr8:6692302-6692313 chr8:6692895-6692905 chr8:6692305-6692313 chr8:6692306-6692313 chr8:6692306-6692313 chr8:6692079-6692088 chr8:6692305-6692314 chr8:6692306-6692313 chr8:6692299-6692316 chr8:6692303-6692317 chr8:6692896-6692906
9	MXI1	chr8:6692080-6692592	IMR90	lung:	n/a	n/a
10	POLR2A	chr8:6692004-6692435	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF263	chr8:6691901-6693288	HEK293-T-REx	kidney:	n/a	n/a
12	POLR2A	chr8:6691922-6692194	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr8:6692021-6693373	H1-hESC	embryonic stem cell:	n/a	chr8:6692465-6692475
14	POLR2A	chr8:6691995-6693274	Gliobla	brain:	n/a	n/a
15	CTCF	chr8:6692100-6692250	HMEC	breast:	n/a	n/a
16	MAX	chr8:6692072-6692567	SK-N-SH	brain:	n/a	chr8:6692465-6692475
17	NRF1	chr8:6691591-6692405	SK-N-SH	brain:	n/a	chr8:6692080-6692089 chr8:6692078-6692089
18	POLR2A	chr8:6691941-6692451	GM12878	blood:	n/a	n/a
19	YY1	chr8:6692122-6692458	GM12878	blood:	n/a	chr8:6692317-6692339 chr8:6692336-6692347 chr8:6692320-6692328
20	MAX	chr8:6692059-6692587	ECC-1	luminal epithelium:	n/a	chr8:6692465-6692475
21	SIN3AK20	chr8:6692038-6692487	SK-N-SH	brain:	n/a	n/a
22	MAX	chr8:6691954-6693347	A549	lung:	n/a	chr8:6692465-6692475
23	POLR2A	chr8:6691757-6693654	H1-hESC	embryonic stem cell:	n/a	n/a
24	YY1	chr8:6692116-6692447	A549	lung:	n/a	chr8:6692317-6692339 chr8:6692336-6692347 chr8:6692320-6692328
25	POLR2A	chr8:6692090-6693267	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr8:6692114-6693371	H1-hESC	embryonic stem cell:	n/a	chr8:6692465-6692475
27	GABPA	chr8:6692030-6692469	A549	lung:	n/a	chr8:6692080-6692089 chr8:6692078-6692089
28	POLR2A	chr8:6691219-6693575	HL-60	blood:	n/a	n/a
29	POLR2A	chr8:6691293-6694197	NB4	blood:	n/a	n/a
30	CTCF	chr8:6692040-6692190	AG04449	skin:	n/a	n/a
31	POLR2A	chr8:6691934-6693544	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr8:6691869-6693536	PBDE	blood:	n/a	n/a
33	E2F6	chr8:6692022-6693421	H1-hESC	embryonic stem cell:	n/a	chr8:6692302-6692313 chr8:6692895-6692905 chr8:6692305-6692313 chr8:6692306-6692313 chr8:6692306-6692313 chr8:6692079-6692088 chr8:6692305-6692314 chr8:6692306-6692313 chr8:6692299-6692316 chr8:6692303-6692317 chr8:6692896-6692906
34	POLR2A	chr8:6692017-6692258	GM12878	blood:	n/a	n/a
35	POLR2A	chr8:6692017-6692440	SK-N-SH	brain:	n/a	n/a
36	ZBTB7A	chr8:6691783-6692239	ECC-1	luminal epithelium:	n/a	n/a
37	MAX	chr8:6691800-6693679	NB4	blood:	n/a	chr8:6692465-6692475
38	MYC	chr8:6691816-6693538	NB4	blood:	n/a	chr8:6692465-6692475
39	YY1	chr8:6692077-6693129	H1-hESC	embryonic stem cell:	n/a	chr8:6692317-6692339 chr8:6693023-6693037 chr8:6692336-6692347 chr8:6692320-6692328 chr8:6693035-6693049
40	POLR2A	chr8:6691901-6693395	GM19193	blood:	n/a	n/a
41	TAF1	chr8:6691997-6693430	H1-hESC	embryonic stem cell:	n/a	n/a
42	YY1	chr8:6692118-6692503	NT2-D1	testis:	n/a	chr8:6692317-6692339 chr8:6692336-6692347 chr8:6692320-6692328
43	POLR2A	chr8:6691764-6693552	SK-N-MC	brain:	n/a	n/a
44	GABPA	chr8:6691872-6692443	SK-N-SH	brain:	n/a	chr8:6692080-6692089 chr8:6692078-6692089
45	TAF1	chr8:6692097-6692522	SK-N-SH	brain:	n/a	n/a
46	TBP	chr8:6692064-6693392	H1-hESC	embryonic stem cell:	n/a	n/a
47	MXI1	chr8:6691249-6694001	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr8:6692001-6692441	IMR90	lung:	n/a	n/a
49	POLR2A	chr8:6692011-6692438	A549	lung:	n/a	n/a
50	YY1	chr8:6691990-6692932	H1-hESC	embryonic stem cell:	n/a	chr8:6692317-6692339 chr8:6692336-6692347 chr8:6692320-6692328 chr8:6692061-6692075

No.	Distal block	Cell Line	Cell type
1	chr8:6687809..6690038-chr8:6690090..6692174,2	MCF-7	breast:
2	chr2:190626444..190627162-chr8:6691837..6692818,2	NB4	blood:
3	chr13:22177933..22178835-chr8:6691861..6692601,2	NB4	blood:

Variant related genes	Relation type
ENSG00000245857	TF binding region
ENSG00000165487	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10091728	1.00[EUR][1000 genomes]
rs10093181	1.00[EUR][1000 genomes]
rs10098895	1.00[EUR][1000 genomes]
rs2702921	1.00[EUR][1000 genomes]
rs2738059	1.00[EUR][1000 genomes]
rs28504261	1.00[EUR][1000 genomes]
rs56807402	1.00[EUR][1000 genomes]
rs5743411	1.00[EUR][1000 genomes]
rs5743415	1.00[EUR][1000 genomes]
rs5743416	1.00[EUR][1000 genomes]
rs5743417	1.00[EUR][1000 genomes]
rs5743426	1.00[EUR][1000 genomes]
rs5743434	1.00[EUR][1000 genomes]
rs5743491	1.00[EUR][1000 genomes]
rs57511565	1.00[EUR][1000 genomes]
rs7011078	1.00[EUR][1000 genomes]
rs73661493	1.00[EUR][1000 genomes]
rs7820009	1.00[EUR][1000 genomes]
rs9773259	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	nsv831220	chr8:6527845-6728491	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
10	nsv465436	chr8:6568201-6921404	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv610006	chr8:6568201-6921404	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic 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	27 gene(s)	inside rSNPs	diseases
12	nsv1027883	chr8:6570354-7250368	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv1034812	chr8:6578390-6920312	Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv949532	chr8:6579563-6999220	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv482865	chr8:6585920-6765111	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription 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	12 gene(s)	inside rSNPs	diseases
16	nsv1015563	chr8:6596171-6730826	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
17	nsv539432	chr8:6596171-6730826	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	nsv1015244	chr8:6638899-6988914	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
19	esv2752262	chr8:6638899-7011075	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
20	nsv1025587	chr8:6651912-7171085	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
21	nsv465437	chr8:6655391-6829085	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	nsv610007	chr8:6655391-6829085	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv1031296	chr8:6673296-6920312	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv890060	chr8:6690276-6717107	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr8:6691200-6692200	Flanking Active TSS	Dnd41	blood
2	chr8:6691200-6693400	Active TSS	Primary T cells from cord blood	blood
3	chr8:6691400-6692200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:6691400-6693400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:6691400-6693400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr8:6691400-6693400	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr8:6691400-6693600	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr8:6691400-6693600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:6691400-6693800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:6691400-6694000	Active TSS	Fetal Kidney	kidney
11	chr8:6691400-6694400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:6691600-6692400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:6691600-6692400	Active TSS	Fetal Intestine Large	intestine
14	chr8:6691600-6692600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr8:6691600-6692600	Active TSS	Duodenum Mucosa	Duodenum
16	chr8:6691600-6692600	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr8:6691600-6692600	Bivalent/Poised TSS	A549	lung
18	chr8:6691600-6692600	Active TSS	GM12878-XiMat	blood
19	chr8:6691600-6692800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
20	chr8:6691600-6693000	Enhancers	Fetal Brain Male	brain
21	chr8:6691600-6693200	Active TSS	Brain Angular Gyrus	brain
22	chr8:6691600-6693200	Active TSS	Fetal Intestine Small	intestine
23	chr8:6691600-6693200	Bivalent/Poised TSS	NHEK	skin
24	chr8:6691600-6693400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr8:6691600-6693400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:6691600-6693400	Active TSS	Fetal Brain Female	brain
27	chr8:6691600-6693600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr8:6691600-6693600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr8:6691600-6693600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr8:6691800-6692200	Active TSS	Brain Germinal Matrix	brain
31	chr8:6691800-6692200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
32	chr8:6691800-6692200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
33	chr8:6691800-6692400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:6691800-6692400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:6691800-6692600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:6691800-6692600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:6691800-6692600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
38	chr8:6691800-6692600	Active TSS	Gastric	stomach
39	chr8:6691800-6692600	Flanking Active TSS	Pancreas	Pancrea
40	chr8:6691800-6692600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr8:6691800-6692600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
42	chr8:6691800-6692800	Flanking Active TSS	Placenta	Placenta
43	chr8:6691800-6692800	Active TSS	Rectal Smooth Muscle	rectum
44	chr8:6691800-6692800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
45	chr8:6691800-6692800	Flanking Active TSS	Spleen	Spleen
46	chr8:6691800-6693000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:6691800-6693000	Active TSS	Aorta	Aorta
48	chr8:6691800-6693000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
49	chr8:6691800-6693000	Active TSS	Thymus	Thymus
50	chr8:6691800-6693000	Active TSS	NHDF-Ad	bronchial

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