Variant report

Variant	rs199507831
Chromosome Location	chr10:22609033-22609034
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr10:22608591-22610646	K562	blood:	n/a	n/a
2	IRF1	chr10:22608556-22609188	K562	blood:	n/a	n/a
3	POLR2A	chr10:22608572-22609648	K562	blood:	n/a	n/a
4	MAFK	chr10:22608874-22609122	HepG2	liver:	n/a	n/a
5	MAZ	chr10:22608776-22611595	IMR90	lung:	n/a	chr10:22609951-22609970 chr10:22609956-22609965 chr10:22609955-22609966 chr10:22611023-22611032 chr10:22609954-22609967
6	SIN3A	chr10:22608949-22609357	H1-hESC	embryonic stem cell:	n/a	n/a
7	TBL1XR1	chr10:22608810-22609200	K562	blood:	n/a	n/a
8	POLR2A	chr10:22608913-22609253	MCF-7	breast:	n/a	n/a
9	MYC	chr10:22608956-22609237	MCF10A-Er-Src	breast:	n/a	n/a
10	ARID3A	chr10:22608889-22609254	K562	blood:	n/a	n/a
11	POLR2A	chr10:22608789-22609185	K562	blood:	n/a	n/a
12	MAZ	chr10:22608727-22610655	K562	blood:	n/a	chr10:22609951-22609970 chr10:22609956-22609965 chr10:22609955-22609966 chr10:22609954-22609967
13	TCF12	chr10:22608768-22609168	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr10:22608816-22610585	GM12878	blood:	n/a	n/a
15	POLR2A	chr10:22608970-22610663	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr10:22608698-22610606	GM12891	blood:	n/a	n/a
17	CTCF	chr10:22608632-22609164	K562	blood:	n/a	n/a
18	MYC	chr10:22608642-22609043	K562	blood:	n/a	n/a
19	POLR2A	chr10:22607170-22609407	H1-neurons	neurons:	n/a	n/a
20	MXI1	chr10:22608464-22612478	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr10:22608934-22609061	ProgFib	skin:	n/a	n/a
22	POLR2A	chr10:22608758-22609136	K562	blood:	n/a	n/a
23	EP300	chr10:22609022-22609222	GM12878	blood:	n/a	n/a
24	CUX1	chr10:22608625-22609330	K562	blood:	n/a	n/a
25	POLR2A	chr10:22607075-22609453	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr10:22608878-22610645	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr10:22608890-22609203	K562	blood:	n/a	n/a
28	E2F4	chr10:22608864-22609198	MCF10A-Er-Src	breast:	n/a	n/a
29	TAL1	chr10:22608874-22609258	K562	blood:	n/a	n/a
30	UBTF	chr10:22608650-22609874	K562	blood:	n/a	n/a
31	MYC	chr10:22608712-22609307	K562	blood:	n/a	n/a
32	POLR2A	chr10:22608895-22610667	K562	blood:	n/a	n/a
33	BHLHE40	chr10:22608967-22609443	K562	blood:	n/a	n/a
34	MXI1	chr10:22608852-22611864	IMR90	lung:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:22482647..22484214-chr10:22607609..22609928,2	K562	blood:
2	chr10:22299957..22302551-chr10:22608056..22610053,2	MCF-7	breast:
3	chr10:22608209..22609987-chr10:22717593..22719148,2	MCF-7	breast:
4	chr10:21760699..21762516-chr10:22607604..22609933,2	MCF-7	breast:
5	chr10:22289174..22294396-chr10:22603847..22611692,9	K562	blood:
6	chr10:22608333..22611559-chr10:22678806..22682635,4	K562	blood:
7	chr10:22290878..22294421-chr10:22605485..22610213,6	K562	blood:
8	chr10:22608172..22617536-chr10:22624000..22632852,24	MCF-7	breast:
9	chr10:21823004..21824663-chr10:22608853..22611559,3	K562	blood:
10	chr10:22606981..22611063-chr10:23000780..23004970,4	K562	blood:
11	chr10:22536525..22546833-chr10:22602936..22612723,20	MCF-7	breast:
12	chr10:22607419..22609653-chr10:22662165..22664852,2	K562	blood:
13	chr10:22607781..22611461-chr10:22678220..22681015,4	K562	blood:
14	chr10:22270244..22271774-chr10:22607853..22610066,2	K562	blood:

No data

Variant related genes	Relation type
BMI1	TF binding region
ENSG00000077327	Chromatin interaction
ENSG00000150867	Chromatin interaction
ENSG00000078403	Chromatin interaction
ENSG00000136770	Chromatin interaction
ENSG00000261671	Chromatin interaction
ENSG00000272366	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825292	chr10:22560347-22642200	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv825293	chr10:22575226-22637618	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv825294	chr10:22590627-22644910	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv825295	chr10:22591275-22643207	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv825296	chr10:22591339-22638994	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv894950	chr10:22591830-22639903	Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv894951	chr10:22594765-22616244	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv894952	chr10:22594765-22618544	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv894953	chr10:22594765-22619304	Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv894954	chr10:22594765-22621960	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	esv1817463	chr10:22594765-22626662	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv894955	chr10:22594765-22631256	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv894956	chr10:22594765-22633193	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv894957	chr10:22594765-22637381	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	esv1816646	chr10:22594765-22639707	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv894958	chr10:22594765-22639903	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	esv1791996	chr10:22595781-22616437	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
18	nsv825297	chr10:22596793-22637576	Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
19	nsv825299	chr10:22596793-22638994	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
20	esv1820141	chr10:22597467-22625441	Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
21	nsv550204	chr10:22601976-22616270	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
22	nsv550205	chr10:22601976-22616784	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
23	nsv894959	chr10:22602013-22619304	ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
24	nsv550206	chr10:22603318-22616270	Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
25	nsv550207	chr10:22605112-22631256	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
26	nsv550208	chr10:22607432-22615763	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
27	esv3321548	chr10:22607546-22611844	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
28	nsv550209	chr10:22607829-22615491	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
29	esv3342642	chr10:22608771-22612319	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22605400-22609400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:22605800-22610000	Weak transcription	Spleen	Spleen
3	chr10:22606200-22609200	Weak transcription	Colonic Mucosa	Colon
4	chr10:22606200-22609200	Weak transcription	Esophagus	oesophagus
5	chr10:22606200-22609200	Weak transcription	Lung	lung
6	chr10:22606200-22609200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr10:22606400-22609400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:22608600-22609200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:22608600-22609200	Enhancers	Small Intestine	intestine
10	chr10:22608600-22609200	Flanking Active TSS	K562	blood
11	chr10:22608600-22609400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:22608600-22609400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr10:22608600-22609400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:22608600-22609400	Bivalent Enhancer	Fetal Thymus	thymus
15	chr10:22608600-22609400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr10:22608800-22609200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:22608800-22609200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:22608800-22609200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr10:22608800-22609200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:22608800-22609200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:22608800-22609200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr10:22608800-22609200	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
23	chr10:22608800-22609200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
24	chr10:22608800-22609200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr10:22608800-22609200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:22608800-22609200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr10:22608800-22609200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr10:22608800-22609200	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr10:22608800-22609200	Flanking Active TSS	Fetal Kidney	kidney
30	chr10:22608800-22609200	Enhancers	Left Ventricle	heart
31	chr10:22608800-22609200	Enhancers	Pancreas	Pancrea
32	chr10:22608800-22609200	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr10:22608800-22609200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr10:22608800-22609200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr10:22608800-22609200	Flanking Active TSS	A549	lung
36	chr10:22608800-22609200	Flanking Active TSS	Hela-S3	cervix
37	chr10:22608800-22609200	Enhancers	HSMM	muscle
38	chr10:22608800-22609200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
39	chr10:22608800-22609400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr10:22608800-22609400	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr10:22608800-22609400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr10:22608800-22609400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr10:22608800-22609400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr10:22608800-22609400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
45	chr10:22608800-22609400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr10:22608800-22609400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr10:22608800-22609400	Flanking Active TSS	Liver	Liver
48	chr10:22608800-22609400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr10:22608800-22609400	Active TSS	Brain Substantia Nigra	brain
50	chr10:22608800-22609400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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