Variant report

Variant	rs372416129
Chromosome Location	chr10:22608296-22608297
allele	-/GAATT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr10:22607723-22608410	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr10:22607778-22608529	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr10:22607170-22609407	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr10:22607075-22609453	H1-neurons	neurons:	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	chr10:22253754..22256487-chr10:22607279..22608984,2	MCF-7	breast:
7	chr10:22290878..22294421-chr10:22605485..22610213,6	K562	blood:
8	chr10:22608172..22617536-chr10:22624000..22632852,24	MCF-7	breast:
9	chr10:22606981..22611063-chr10:23000780..23004970,4	K562	blood:
10	chr10:22536525..22546833-chr10:22602936..22612723,20	MCF-7	breast:
11	chr10:22607419..22609653-chr10:22662165..22664852,2	K562	blood:
12	chr10:22607781..22611461-chr10:22678220..22681015,4	K562	blood:
13	chr10:22607820..22608812-chr3:47823476..47824299,2	Hela-S3	cervix:
14	chr10:22270244..22271774-chr10:22607853..22610066,2	K562	blood:

No data

Variant related genes	Relation type
BMI1	TF binding region
ENSG00000150867	Chromatin interaction
ENSG00000077327	Chromatin interaction
ENSG00000261671	Chromatin interaction
ENSG00000136770	Chromatin interaction
ENSG00000272366	Chromatin interaction
ENSG00000173473	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 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

No data

Chromatin state (count:84 , 50 per page) page: 1 2

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	chr10:22606000-22608600	Weak transcription	Small Intestine	intestine
4	chr10:22606200-22608800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:22606200-22608800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:22606200-22608800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:22606200-22608800	Weak transcription	Left Ventricle	heart
8	chr10:22606200-22608800	Weak transcription	Pancreas	Pancrea
9	chr10:22606200-22608800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:22606200-22609000	Weak transcription	Aorta	Aorta
11	chr10:22606200-22609000	Weak transcription	Placenta	Placenta
12	chr10:22606200-22609000	Weak transcription	Fetal Stomach	stomach
13	chr10:22606200-22609000	Weak transcription	Ovary	ovary
14	chr10:22606200-22609200	Weak transcription	Colonic Mucosa	Colon
15	chr10:22606200-22609200	Weak transcription	Esophagus	oesophagus
16	chr10:22606200-22609200	Weak transcription	Lung	lung
17	chr10:22606200-22609200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr10:22606400-22608600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr10:22606400-22608800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:22606400-22608800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:22606400-22608800	Weak transcription	Fetal Muscle Leg	muscle
22	chr10:22606400-22608800	Weak transcription	HSMMtube	muscle
23	chr10:22606400-22609000	Weak transcription	Brain Angular Gyrus	brain
24	chr10:22606400-22609000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr10:22606400-22609000	Weak transcription	Right Ventricle	heart
26	chr10:22606400-22609400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr10:22606600-22608600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr10:22606600-22608800	Enhancers	Primary T cells from cord blood	blood
29	chr10:22606600-22608800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr10:22606600-22608800	Weak transcription	Adipose Nuclei	Adipose
31	chr10:22606600-22608800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr10:22606600-22608800	Enhancers	HepG2	liver
33	chr10:22606600-22609000	Enhancers	Fetal Intestine Large	intestine
34	chr10:22606800-22608600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr10:22606800-22608800	Enhancers	Primary B cells from cord blood	blood
36	chr10:22606800-22608800	Weak transcription	Brain Anterior Caudate	brain
37	chr10:22607000-22608600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr10:22607000-22608600	Weak transcription	Fetal Intestine Small	intestine
39	chr10:22607000-22608600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr10:22607000-22608800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr10:22607000-22608800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr10:22607000-22608800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr10:22607000-22608800	Weak transcription	Brain Hippocampus Middle	brain
44	chr10:22607000-22608800	Weak transcription	Brain Substantia Nigra	brain
45	chr10:22607000-22608800	Weak transcription	Right Atrium	heart
46	chr10:22607000-22608800	Weak transcription	Stomach Mucosa	stomach
47	chr10:22607000-22608800	Weak transcription	HSMM	muscle
48	chr10:22607000-22608800	Weak transcription	NHLF	lung
49	chr10:22607000-22609000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:22607000-22609000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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