Variant report

Variant	rs532613223
Chromosome Location	chr22:30163925-30163926
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	POLR2A	chr22:30161918-30164923	HepG2	liver:	n/a	n/a
2	POLR2A	chr22:30163229-30164119	K562	blood:	n/a	n/a
3	YY1	chr22:30162649-30164047	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr22:30162169-30164469	GM12891	blood:	n/a	n/a
5	PML	chr22:30162267-30164081	GM12878	blood:	n/a	n/a
6	POLR2A	chr22:30162386-30163930	GM18951	blood:	n/a	n/a
7	POLR2A	chr22:30162364-30163935	GM19099	blood:	n/a	n/a
8	POLR2A	chr22:30162323-30164093	K562	blood:	n/a	n/a
9	YY1	chr22:30162647-30163990	GM12878	blood:	n/a	n/a
10	POLR2A	chr22:30163235-30164118	GM12878	blood:	n/a	n/a
11	NRF1	chr22:30162723-30164030	SK-N-SH	brain:	n/a	chr22:30163349-30163360 chr22:30163346-30163360 chr22:30163349-30163363 chr22:30163349-30163360
12	REST	chr22:30162312-30163933	H1-neurons	neurons:	n/a	chr22:30162721-30162731 chr22:30162793-30162806
13	SIN3AK20	chr22:30162408-30163979	MCF-7	breast:	n/a	n/a
14	RELA	chr22:30162367-30163929	GM15510	blood:	n/a	n/a
15	HCFC1	chr22:30161822-30164418	Hela-S3	cervix:	n/a	n/a
16	WRNIP1	chr22:30162494-30164290	GM12878	blood:	n/a	n/a
17	POLR2A	chr22:30162633-30164067	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr22:30162329-30164174	K562	blood:	n/a	n/a
19	POLR2A	chr22:30163250-30164600	K562	blood:	n/a	n/a
20	POLR2A	chr22:30162616-30164144	MCF10A-Er-Src	breast:	n/a	n/a
21	SIN3A	chr22:30162484-30164004	H1-hESC	embryonic stem cell:	n/a	chr22:30162721-30162730
22	POLR2A	chr22:30162238-30164544	PBDE	blood:	n/a	n/a
23	POLR2A	chr22:30162327-30164538	MCF10A-Er-Src	breast:	n/a	n/a
24	MTA3	chr22:30162134-30163961	GM12878	blood:	n/a	n/a
25	POLR2A	chr22:30162188-30164606	HepG2	liver:	n/a	n/a
26	YY1	chr22:30162760-30163950	GM12878	blood:	n/a	n/a
27	YY1	chr22:30162663-30163957	ECC-1	luminal epithelium:	n/a	n/a
28	YY1	chr22:30162633-30163976	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30162371..30164035-chr22:30233277..30234908,2	MCF-7	breast:

Variant related genes	Relation type
ZMAT5	TF binding region
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	chr22:30162400-30164000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:30162400-30164000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr22:30162400-30164000	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr22:30162400-30164000	Active TSS	Esophagus	oesophagus
22	chr22:30162400-30164000	Active TSS	Fetal Lung	lung
23	chr22:30162400-30164000	Active TSS	Gastric	stomach
24	chr22:30162400-30164000	Active TSS	Small Intestine	intestine
25	chr22:30162400-30164000	Active TSS	HMEC	breast
26	chr22:30162400-30164000	Active TSS	HSMMtube	muscle
27	chr22:30162400-30164200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr22:30162400-30164200	Active TSS	H1 Cell Line	embryonic stem cell
29	chr22:30162400-30164200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr22:30162400-30164200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr22:30162400-30164200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:30162400-30164200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr22:30162400-30164200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr22:30162400-30164200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr22:30162400-30164200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr22:30162400-30164200	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr22:30162400-30164200	Active TSS	Fetal Intestine Large	intestine
38	chr22:30162400-30164200	Active TSS	Fetal Intestine Small	intestine
39	chr22:30162400-30164200	Active TSS	Fetal Kidney	kidney
40	chr22:30162400-30164200	Active TSS	Psoas Muscle	Psoas
41	chr22:30162400-30164200	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr22:30162400-30164200	Active TSS	GM12878-XiMat	blood
43	chr22:30162400-30164200	Bivalent/Poised TSS	HepG2	liver
44	chr22:30162400-30164400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr22:30162400-30164400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:30162400-30164400	Active TSS	K562	blood
47	chr22:30162600-30164000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:30162600-30164000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr22:30162600-30164000	Active TSS	Muscle Satellite Cultured Cells	--
50	chr22:30162600-30164000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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