Variant report

Variant	rs376290630
Chromosome Location	chr22:30163554-30163555
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	TAF1	chr22:30162350-30163865	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr22:30162490-30163590	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:30161918-30164923	HepG2	liver:	n/a	n/a
4	RFX5	chr22:30162727-30163640	GM12878	blood:	n/a	n/a
5	CTCF	chr22:30163334-30163594	T-47D	breast:	n/a	n/a
6	POLR2A	chr22:30162445-30163647	GM12892	blood:	n/a	n/a
7	YY1	chr22:30162758-30163719	K562	blood:	n/a	n/a
8	TAF1	chr22:30163184-30163647	GM12891	blood:	n/a	n/a
9	HEY1	chr22:30163198-30163616	HepG2	liver:	n/a	n/a
10	POLR2A	chr22:30163229-30164119	K562	blood:	n/a	n/a
11	IRF1	chr22:30162721-30163750	K562	blood:	n/a	n/a
12	POLR2A	chr22:30163201-30163623	Hela-S3	cervix:	n/a	n/a
13	YY1	chr22:30162649-30164047	SK-N-SH	brain:	n/a	n/a
14	TAF1	chr22:30163285-30163627	K562	blood:	n/a	n/a
15	E2F6	chr22:30162729-30163623	K562	blood:	n/a	chr22:30163079-30163091 chr22:30163350-30163359 chr22:30163094-30163108
16	POLR2A	chr22:30162169-30164469	GM12891	blood:	n/a	n/a
17	POLR2A	chr22:30163181-30163701	PANC-1	pancreas:	n/a	n/a
18	TBP	chr22:30162278-30163627	HepG2	liver:	n/a	n/a
19	POLR2A	chr22:30163118-30163696	GM12892	blood:	n/a	n/a
20	HCFC1	chr22:30162549-30163690	K562	blood:	n/a	n/a
21	MYC	chr22:30162711-30163668	NB4	blood:	n/a	n/a
22	TAF1	chr22:30163143-30163717	H1-neurons	neurons:	n/a	n/a
23	BHLHE40	chr22:30162705-30163875	GM12878	blood:	n/a	n/a
24	POLR2A	chr22:30162506-30163738	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr22:30163155-30163718	GM12892	blood:	n/a	n/a
26	YY1	chr22:30163243-30163638	GM12891	blood:	n/a	n/a
27	MYC	chr22:30162831-30163585	MCF10A-Er-Src	breast:	n/a	n/a
28	PML	chr22:30163255-30163599	GM12878	blood:	n/a	n/a
29	POLR2A	chr22:30163200-30163671	Hela-S3	cervix:	n/a	n/a
30	MXI1	chr22:30162284-30163801	HepG2	liver:	n/a	n/a
31	POLR2A	chr22:30163243-30163630	K562	blood:	n/a	n/a
32	POLR2A	chr22:30163151-30163671	HCT-116	colon:	n/a	n/a
33	POLR2A	chr22:30162557-30163730	GM12891	blood:	n/a	n/a
34	POLR2A	chr22:30163250-30163618	GM12878	blood:	n/a	n/a
35	POLR2A	chr22:30163214-30163635	SK-N-MC	brain:	n/a	n/a
36	ZBTB7A	chr22:30163423-30163583	K562	blood:	n/a	n/a
37	POLR2A	chr22:30162645-30163632	K562	blood:	n/a	n/a
38	TAF1	chr22:30162577-30163740	A549	lung:	n/a	n/a
39	TAF1	chr22:30163257-30163628	HepG2	liver:	n/a	n/a
40	STAT5A	chr22:30162128-30163631	GM12878	blood:	n/a	chr22:30163143-30163151
41	POLR2A	chr22:30162373-30163620	K562	blood:	n/a	n/a
42	NFIC	chr22:30162660-30163586	GM12878	blood:	n/a	n/a
43	REST	chr22:30163238-30163600	A549	lung:	n/a	n/a
44	POLR2A	chr22:30162651-30163663	Gliobla	brain:	n/a	n/a
45	ZNF143	chr22:30162573-30163780	H1-hESC	embryonic stem cell:	n/a	chr22:30163291-30163300 chr22:30163118-30163127 chr22:30163109-30163127 chr22:30163104-30163123 chr22:30163293-30163302 chr22:30163116-30163125
46	MAX	chr22:30162507-30163785	A549	lung:	n/a	n/a
47	YY1	chr22:30163194-30163594	K562	blood:	n/a	n/a
48	RCOR1	chr22:30162336-30163631	HepG2	liver:	n/a	n/a
49	POLR2A	chr22:30162589-30163712	ProgFib	skin:	n/a	n/a
50	POLR2A	chr22:30163263-30163577	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30162371..30164035-chr22:30233277..30234908,2	MCF-7	breast:
2	chr22:30161269..30163676-chr22:30230353..30231980,2	MCF-7	breast:
3	chr17:80186628..80187493-chr22:30163288..30163911,2	HCT-116	colon:
4	chr22:30161539..30163655-chr22:30194119..30196895,2	K562	blood:
5	chr22:30161121..30163790-chr22:30207742..30209725,2	MCF-7	breast:

Variant related genes	Relation type
ZMAT5	TF binding region
ENSG00000141526	Chromatin interaction
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3455777	chr22:30163399-30165775	Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3427758	chr22:30163408-30165761	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3372672	chr22:30163423-30165783	Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3498901	chr22:30163439-30165723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3498902	chr22:30163439-30165723	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3455776	chr22:30163466-30165704	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3327609	chr22:30163479-30165716	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3455774	chr22:30163523-30165670	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv817987	chr22:30163526-30169436	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv3455778	chr22:30163537-30165667	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30161000-30164000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:30161800-30164000	Active TSS	Rectal Smooth Muscle	rectum
3	chr22:30161800-30164200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr22:30161800-30164800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr22:30162000-30164000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr22:30162000-30164200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr22:30162000-30164400	Active TSS	HSMM	muscle
8	chr22:30162000-30164600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr22:30162000-30164600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:30162000-30164600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr22:30162000-30164600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr22:30162000-30164600	Active TSS	A549	lung
13	chr22:30162200-30164000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:30162200-30164000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr22:30162200-30164200	Active TSS	Aorta	Aorta
16	chr22:30162200-30164200	Active TSS	Ovary	ovary
17	chr22:30162200-30164200	Active TSS	NHDF-Ad	bronchial
18	chr22:30162400-30163600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr22:30162400-30163800	Active TSS	Brain Substantia Nigra	brain
20	chr22:30162400-30164000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:30162400-30164000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr22:30162400-30164000	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr22:30162400-30164000	Active TSS	Esophagus	oesophagus
24	chr22:30162400-30164000	Active TSS	Fetal Lung	lung
25	chr22:30162400-30164000	Active TSS	Gastric	stomach
26	chr22:30162400-30164000	Active TSS	Small Intestine	intestine
27	chr22:30162400-30164000	Active TSS	HMEC	breast
28	chr22:30162400-30164000	Active TSS	HSMMtube	muscle
29	chr22:30162400-30164200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr22:30162400-30164200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr22:30162400-30164200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr22:30162400-30164200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr22:30162400-30164200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:30162400-30164200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr22:30162400-30164200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:30162400-30164200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:30162400-30164200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr22:30162400-30164200	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr22:30162400-30164200	Active TSS	Fetal Intestine Large	intestine
40	chr22:30162400-30164200	Active TSS	Fetal Intestine Small	intestine
41	chr22:30162400-30164200	Active TSS	Fetal Kidney	kidney
42	chr22:30162400-30164200	Active TSS	Psoas Muscle	Psoas
43	chr22:30162400-30164200	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr22:30162400-30164200	Active TSS	GM12878-XiMat	blood
45	chr22:30162400-30164200	Bivalent/Poised TSS	HepG2	liver
46	chr22:30162400-30164400	Active TSS	H9 Cell Line	embryonic stem cell
47	chr22:30162400-30164400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:30162400-30164400	Active TSS	K562	blood
49	chr22:30162600-30163600	Active TSS	Primary T cells from cord blood	blood
50	chr22:30162600-30163600	Active TSS	Primary hematopoietic stem cells	blood

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