Variant report

Variant	rs74123016
Chromosome Location	chr10:22626199-22626200
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	SUZ12	chr10:22625860-22626225	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr10:22624815-22626269	H1-neurons	neurons:	n/a	chr10:22624991-22625004 chr10:22625864-22625882
3	GATA2	chr10:22625253-22626229	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr10:22623287-22629957	H1-neurons	neurons:	n/a	n/a
5	SP1	chr10:22625846-22626319	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr10:22622616-22631897	H1-neurons	neurons:	n/a	n/a
7	MAX	chr10:22622814-22626237	H1-hESC	embryonic stem cell:	n/a	chr10:22623172-22623185 chr10:22625676-22625686
8	TCF12	chr10:22626139-22626347	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:22625349..22627052-chr10:22768621..22770195,2	K562	blood:
2	chr10:22625398..22631647-chr10:22676300..22682265,8	K562	blood:
3	chr10:22608172..22617536-chr10:22624000..22632852,24	MCF-7	breast:
4	chr10:22626106..22628685-chr10:22802579..22804183,2	K562	blood:

Variant related genes	Relation type
ENSG00000271981	TF binding region
ENSG00000077327	Chromatin interaction
ENSG00000168283	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs74123015	1.00[AFR][1000 genomes]
rs74123026	1.00[AFR][1000 genomes]
rs74123027	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22619200-22628600	Weak transcription	Hela-S3	cervix
2	chr10:22622800-22626200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr10:22623200-22626200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr10:22623200-22626200	Bivalent/Poised TSS	NHEK	skin
5	chr10:22623400-22626400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:22624000-22626200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
7	chr10:22624600-22626200	Bivalent Enhancer	Fetal Intestine Small	intestine
8	chr10:22624600-22626400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
9	chr10:22624800-22626200	Bivalent Enhancer	Fetal Stomach	stomach
10	chr10:22624800-22626200	Bivalent Enhancer	Spleen	Spleen
11	chr10:22624800-22626800	Weak transcription	Aorta	Aorta
12	chr10:22625000-22626400	Bivalent Enhancer	Fetal Brain Male	brain
13	chr10:22625200-22626200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr10:22625200-22626200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
15	chr10:22625200-22626200	Bivalent Enhancer	Placenta	Placenta
16	chr10:22625200-22626200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
17	chr10:22625200-22626400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:22625400-22626200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr10:22625400-22626400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr10:22625600-22626200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
21	chr10:22625600-22626400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
22	chr10:22625600-22626600	Bivalent Enhancer	Colon Smooth Muscle	Colon
23	chr10:22625800-22626200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr10:22625800-22626200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
25	chr10:22625800-22626200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
26	chr10:22625800-22626200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
27	chr10:22625800-22626200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:22625800-22626200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr10:22625800-22626200	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr10:22625800-22626200	Bivalent Enhancer	Fetal Thymus	thymus
31	chr10:22625800-22626200	Enhancers	Pancreas	Pancrea
32	chr10:22625800-22626200	Bivalent Enhancer	Dnd41	blood
33	chr10:22625800-22626200	Bivalent/Poised TSS	GM12878-XiMat	blood
34	chr10:22625800-22626200	Bivalent Enhancer	HUVEC	blood vessel
35	chr10:22625800-22626200	Bivalent/Poised TSS	NH-A	brain
36	chr10:22625800-22626400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr10:22625800-22626400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr10:22625800-22626400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
39	chr10:22625800-22626400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
40	chr10:22625800-22626400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
41	chr10:22625800-22626600	Bivalent/Poised TSS	Psoas Muscle	Psoas
42	chr10:22626000-22626200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
43	chr10:22626000-22626200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:22626000-22626200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr10:22626000-22626200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr10:22626000-22626200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
47	chr10:22626000-22626200	Bivalent Enhancer	Primary T cells from cord blood	blood
48	chr10:22626000-22626200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr10:22626000-22626200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
50	chr10:22626000-22626200	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood

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