Variant report

Variant	rs2422488
Chromosome Location	chr11:67163348-67163349
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67163137-67163422	ProgFib	skin:	n/a	n/a
2	POLR2A	chr11:67162620-67163734	U87	brain:	n/a	n/a
3	POLR2A	chr11:67162928-67163411	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:67162849-67167326	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:67162576-67164718	U87	brain:	n/a	n/a
6	POLR2A	chr11:67162795-67163652	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:67162831-67167316	K562	blood:	n/a	n/a
8	POLR2A	chr11:67162909-67163600	A549	lung:	n/a	n/a
9	POLR2A	chr11:67163163-67163770	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:67162819-67163681	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr11:67162599-67167265	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr11:67162915-67163594	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:67162808-67163540	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:67163149-67167243	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:67162905-67163529	MCF-7	breast:	n/a	n/a
16	POLR2A	chr11:67163198-67163369	MCF-7	breast:	n/a	n/a
17	POLR2A	chr11:67162873-67167363	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:67162996-67163370	K562	blood:	n/a	n/a
19	POLR2A	chr11:67162727-67164434	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr11:67162822-67167423	K562	blood:	n/a	n/a
21	POLR2A	chr11:67163118-67163700	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:67163014-67163361	MCF-7	breast:	n/a	n/a
23	POLR2A	chr11:67162943-67163492	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:67162931-67167248	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:67162880-67163427	GM12892	blood:	n/a	n/a
26	POLR2A	chr11:67162796-67164735	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr11:67162854-67167503	K562	blood:	n/a	n/a
28	POLR2A	chr11:67163155-67163536	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67161941..67164521-chr11:67269135..67270716,2	K562	blood:
2	chr11:67032184..67035938-chr11:67163286..67166360,3	K562	blood:

No data

Variant related genes	Relation type
RNU6-1238P	TF binding region
ENSG00000110697	Chromatin interaction
ENSG00000173020	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17882894	1.00[AMR][1000 genomes]
rs17882925	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885120	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364247	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61743296	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61746685	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7123483	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7926020	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7951800	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
4	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS 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 target site	85 gene(s)	inside rSNPs	diseases
6	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
8	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
9	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
10	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
11	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
12	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
13	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers 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	154 gene(s)	inside rSNPs	diseases
14	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
15	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
16	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer 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	176 gene(s)	inside rSNPs	diseases
17	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
18	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers 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	148 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67160000-67163600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:67160000-67165000	Weak transcription	Aorta	Aorta
3	chr11:67160200-67165000	Weak transcription	Small Intestine	intestine
4	chr11:67160200-67166200	Weak transcription	Fetal Kidney	kidney
5	chr11:67160200-67167000	Weak transcription	Psoas Muscle	Psoas
6	chr11:67160400-67163600	Weak transcription	Brain Angular Gyrus	brain
7	chr11:67160400-67163600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:67160400-67163800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:67160400-67164000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:67160400-67164000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:67160400-67164000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:67160400-67164000	Strong transcription	Thymus	Thymus
13	chr11:67160400-67164200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:67160400-67164200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:67160400-67164200	Weak transcription	HMEC	breast
16	chr11:67160400-67164200	Weak transcription	HUVEC	blood vessel
17	chr11:67160400-67164400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:67160400-67164800	Weak transcription	Left Ventricle	heart
19	chr11:67160400-67165000	Weak transcription	Stomach Mucosa	stomach
20	chr11:67160400-67165000	Weak transcription	NHDF-Ad	bronchial
21	chr11:67160400-67165200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:67160400-67165200	Weak transcription	HSMMtube	muscle
23	chr11:67160400-67165200	Weak transcription	NH-A	brain
24	chr11:67160400-67165400	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:67160400-67166600	Strong transcription	Brain Cingulate Gyrus	brain
26	chr11:67160400-67166800	Strong transcription	A549	lung
27	chr11:67160400-67167800	Weak transcription	Right Atrium	heart
28	chr11:67160600-67164000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:67160600-67164000	Strong transcription	Fetal Intestine Small	intestine
30	chr11:67160600-67165000	Weak transcription	HSMM	muscle
31	chr11:67160600-67166800	Weak transcription	Fetal Brain Male	brain
32	chr11:67160800-67163800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:67160800-67163800	Strong transcription	Fetal Stomach	stomach
34	chr11:67160800-67165000	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:67160800-67167000	Strong transcription	Fetal Intestine Large	intestine
36	chr11:67160800-67167200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:67160800-67167200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:67161000-67163600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr11:67161000-67163800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:67161000-67164200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:67161000-67165000	Weak transcription	Fetal Heart	heart
42	chr11:67161000-67166400	Strong transcription	Lung	lung
43	chr11:67161000-67166800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:67161000-67167400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:67161000-67167600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:67161200-67163400	Strong transcription	Primary T cells from cord blood	blood
47	chr11:67161200-67164400	Weak transcription	Primary B cells from cord blood	blood
48	chr11:67161200-67164800	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:67161200-67166000	Strong transcription	Esophagus	oesophagus
50	chr11:67161200-67167000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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