Variant report

Variant	rs74123015
Chromosome Location	chr10:22623804-22623805
allele	C/T
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	MAX	chr10:22622755-22625994	H1-hESC	embryonic stem cell:	n/a	chr10:22622781-22622789 chr10:22623172-22623185 chr10:22625676-22625686
2	YY1	chr10:22623766-22624728	H1-hESC	embryonic stem cell:	n/a	chr10:22624132-22624146 chr10:22624616-22624625 chr10:22624135-22624149 chr10:22624408-22624418 chr10:22624222-22624236 chr10:22624611-22624625
3	ELF1	chr10:22623271-22623810	GM12878	blood:	n/a	n/a
4	HMGN3	chr10:22623264-22623894	K562	blood:	n/a	n/a
5	ZNF263	chr10:22623391-22623851	HEK293-T-REx	kidney:	n/a	chr10:22623775-22623784
6	MAX	chr10:22622874-22626064	H1-hESC	embryonic stem cell:	n/a	chr10:22623172-22623185 chr10:22625676-22625686
7	POLR2A	chr10:22623287-22629957	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr10:22622616-22631897	H1-neurons	neurons:	n/a	n/a
9	CTCF	chr10:22623680-22623830	GM12866	blood:	n/a	n/a
10	E2F6	chr10:22622797-22626172	H1-hESC	embryonic stem cell:	n/a	chr10:22624686-22624693 chr10:22625430-22625442 chr10:22623600-22623609 chr10:22624683-22624694 chr10:22623673-22623682 chr10:22625791-22625800 chr10:22625587-22625597 chr10:22623465-22623473 chr10:22623465-22623473 chr10:22623600-22623612 chr10:22623462-22623473 chr10:22623416-22623425 chr10:22625672-22625684 chr10:22623674-22623681 chr10:22624684-22624694 chr10:22623601-22623608 chr10:22623465-22623473 chr10:22625207-22625216 chr10:22624611-22624621 chr10:22623674-22623681 chr10:22623601-22623608 chr10:22623463-22623474 chr10:22623597-22623611 chr10:22624685-22624693 chr10:22623466-22623473 chr10:22624685-22624693 chr10:22623674-22623681 chr10:22623596-22623611 chr10:22624132-22624142 chr10:22623670-22623682 chr10:22623601-22623608 chr10:22623464-22623474
11	SUZ12	chr10:22622630-22625652	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr10:22622814-22626237	H1-hESC	embryonic stem cell:	n/a	chr10:22623172-22623185 chr10:22625676-22625686
13	E2F6	chr10:22622841-22625856	H1-hESC	embryonic stem cell:	n/a	chr10:22624686-22624693 chr10:22625430-22625442 chr10:22623600-22623609 chr10:22624683-22624694 chr10:22623673-22623682 chr10:22625791-22625800 chr10:22625587-22625597 chr10:22623465-22623473 chr10:22623465-22623473 chr10:22623600-22623612 chr10:22623462-22623473 chr10:22623416-22623425 chr10:22625672-22625684 chr10:22623674-22623681 chr10:22624684-22624694 chr10:22623601-22623608 chr10:22623465-22623473 chr10:22625207-22625216 chr10:22624611-22624621 chr10:22623674-22623681 chr10:22623601-22623608 chr10:22623463-22623474 chr10:22623597-22623611 chr10:22624685-22624693 chr10:22623466-22623473 chr10:22624685-22624693 chr10:22623674-22623681 chr10:22623596-22623611 chr10:22624132-22624142 chr10:22623670-22623682 chr10:22623601-22623608 chr10:22623464-22623474

No.	Distal block	Cell Line	Cell type
1	chr10:22622538..22625254-chr10:22679693..22681433,2	K562	blood:
2	chr10:22621960..22624576-chr10:22656842..22659614,2	K562	blood:
3	chr10:22290995..22292700-chr10:22622684..22624712,2	K562	blood:

Variant related genes	Relation type
ENSG00000271981	TF binding region
ENSG00000136770	Chromatin interaction
ENSG00000077327	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs74123016	1.00[AFR][1000 genomes]
rs74123026	1.00[AFR][1000 genomes]
rs74123027	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
16	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22618600-22624000	Weak transcription	Aorta	Aorta
2	chr10:22619000-22624200	Weak transcription	A549	lung
3	chr10:22619200-22628600	Weak transcription	Hela-S3	cervix
4	chr10:22619400-22624000	Weak transcription	HSMM	muscle
5	chr10:22621800-22626000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
6	chr10:22622000-22625800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
7	chr10:22622400-22626000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr10:22622600-22624200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:22622600-22625400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr10:22622600-22626000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr10:22622800-22624000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr10:22622800-22624000	Bivalent Enhancer	Placenta	Placenta
13	chr10:22622800-22624000	Bivalent Enhancer	Left Ventricle	heart
14	chr10:22622800-22624000	Bivalent Enhancer	Lung	lung
15	chr10:22622800-22624000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
16	chr10:22622800-22624200	Bivalent Enhancer	Spleen	Spleen
17	chr10:22622800-22625800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr10:22622800-22626200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr10:22623000-22624000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr10:22623000-22624000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
21	chr10:22623000-22624000	Bivalent Enhancer	Liver	Liver
22	chr10:22623000-22624200	Bivalent Enhancer	Fetal Brain Male	brain
23	chr10:22623000-22625200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr10:22623000-22625400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr10:22623000-22626000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr10:22623200-22624000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr10:22623200-22624000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr10:22623200-22624000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:22623200-22624000	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr10:22623200-22624200	Active TSS	Brain Anterior Caudate	brain
31	chr10:22623200-22624400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
32	chr10:22623200-22624600	Bivalent/Poised TSS	Fetal Kidney	kidney
33	chr10:22623200-22624800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr10:22623200-22624800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:22623200-22625000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
36	chr10:22623200-22625000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr10:22623200-22625400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr10:22623200-22625800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:22623200-22625800	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr10:22623200-22625800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr10:22623200-22625800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr10:22623200-22626000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr10:22623200-22626000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:22623200-22626000	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr10:22623200-22626000	Flanking Active TSS	Right Ventricle	heart
46	chr10:22623200-22626200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr10:22623200-22626200	Bivalent/Poised TSS	NHEK	skin
48	chr10:22623400-22624200	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr10:22623400-22624600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
50	chr10:22623400-22624800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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