Variant report

Variant	rs12419237
Chromosome Location	chr11:65365077-65365078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65364994-65365654	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:65365036-65365409	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:65364876-65365611	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:65364888-65365492	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr11:65364967-65365264	K562	blood:	n/a	n/a
6	POLR2A	chr11:65364853-65365208	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:65363008-65369416	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:65364989-65365146	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:65364886-65368979	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr11:65364866-65365476	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:65364969-65365341	HL-60	blood:	n/a	n/a
12	POLR2A	chr11:65365041-65366122	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr11:65364896-65365350	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:65364980-65366151	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr11:65364873-65365346	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr11:65364914-65365717	K562	blood:	n/a	n/a
17	POLR2A	chr11:65364951-65365962	HL-60	blood:	n/a	n/a
18	POLR2A	chr11:65364940-65365635	K562	blood:	n/a	n/a
19	POLR2A	chr11:65364944-65365214	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:65364942-65365645	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:65364987-65365235	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:65364989-65365812	U87	brain:	n/a	n/a
23	POLR2A	chr11:65364993-65369185	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr11:65364904-65365870	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:65365070-65365538	GM12891	blood:	n/a	n/a
26	POLR2A	chr11:65364926-65365433	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:65365039-65365270	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:65364900-65365264	GM12892	blood:	n/a	n/a
29	POLR2A	chr11:65364969-65365241	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65357349..65361279-chr11:65364424..65367615,3	MCF-7	breast:
2	chr11:65363478..65365098-chr11:65415778..65418255,2	MCF-7	breast:
3	chr11:65351177..65356604-chr11:65359918..65365733,9	MCF-7	breast:

No data

Variant related genes	Relation type
KCNK7	TF binding region
ENSG00000173442	Chromatin interaction
ENSG00000173338	Chromatin interaction
ENSG00000265874	Chromatin interaction
ENSG00000269018	Chromatin interaction
ENSG00000213445	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4601790	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking 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 miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
3	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
4	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
5	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
6	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
7	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
8	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
9	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
10	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
11	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
12	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
13	nsv897730	chr11:65302893-65376484	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv468599	chr11:65335705-65427346	ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
15	nsv555213	chr11:65335705-65427346	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
16	nsv897732	chr11:65335705-65427346	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
17	nsv468600	chr11:65335705-65431360	Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
18	nsv555214	chr11:65335705-65431360	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
19	nsv897733	chr11:65335705-65431360	Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription 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	92 gene(s)	inside rSNPs	diseases
20	nsv897734	chr11:65335705-65436888	Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
21	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
22	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
23	nsv897738	chr11:65337714-65380248	Genic enhancers Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
24	nsv897739	chr11:65337714-65388300	Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
25	nsv897740	chr11:65338589-65371604	Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
26	nsv897741	chr11:65338589-65376484	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
27	nsv897742	chr11:65338589-65380248	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
28	nsv897743	chr11:65338589-65382564	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
29	nsv897745	chr11:65339099-65367253	Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
30	esv2761680	chr11:65344328-65391317	Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	46 gene(s)	inside rSNPs	diseases
31	nsv897746	chr11:65349756-65427346	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
32	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 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	chr11:65355800-65370800	Weak transcription	Small Intestine	intestine
2	chr11:65356400-65365200	Weak transcription	Psoas Muscle	Psoas
3	chr11:65356800-65376400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:65357800-65371200	Weak transcription	GM12878-XiMat	blood
5	chr11:65358200-65365200	Weak transcription	A549	lung
6	chr11:65358200-65370600	Weak transcription	NHDF-Ad	bronchial
7	chr11:65359600-65365200	Weak transcription	Fetal Lung	lung
8	chr11:65359800-65365200	Weak transcription	Aorta	Aorta
9	chr11:65361000-65374000	Weak transcription	Fetal Brain Male	brain
10	chr11:65361200-65365200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:65361200-65374200	Strong transcription	Fetal Intestine Small	intestine
12	chr11:65361400-65365200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:65361400-65365200	Weak transcription	Left Ventricle	heart
14	chr11:65361400-65365400	Weak transcription	Dnd41	blood
15	chr11:65361400-65366200	Weak transcription	Fetal Kidney	kidney
16	chr11:65361400-65372600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:65361600-65365200	Weak transcription	Brain Germinal Matrix	brain
18	chr11:65361800-65365200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:65361800-65365800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:65361800-65370600	Weak transcription	HSMM	muscle
21	chr11:65362000-65365200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:65362000-65371600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:65362200-65366600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:65362200-65379800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:65362800-65374000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:65363400-65365200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:65363400-65369200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:65363400-65371000	Weak transcription	Right Atrium	heart
29	chr11:65363400-65374000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:65363600-65365200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:65363600-65365200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:65363600-65365200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:65363600-65365200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:65363600-65365200	Weak transcription	Colonic Mucosa	Colon
35	chr11:65363600-65368200	Strong transcription	Brain Angular Gyrus	brain
36	chr11:65363600-65370800	Weak transcription	HMEC	breast
37	chr11:65363600-65371200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr11:65363600-65371400	Weak transcription	NHEK	skin
39	chr11:65363600-65372400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:65363600-65374000	Weak transcription	Fetal Heart	heart
41	chr11:65363600-65374000	Strong transcription	Fetal Stomach	stomach
42	chr11:65363600-65374200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:65363600-65375000	Strong transcription	Thymus	Thymus
44	chr11:65363600-65376800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:65363800-65365200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:65363800-65365200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr11:65363800-65365200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:65363800-65365800	Weak transcription	Hela-S3	cervix
49	chr11:65363800-65367200	Strong transcription	Spleen	Spleen
50	chr11:65363800-65369000	Strong transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links