Variant report

Variant	rs45595946
Chromosome Location	chr22:30752175-30752176
allele	G/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	RUNX3	chr22:30752123-30753317	GM12878	blood:	n/a	n/a
2	MAZ	chr22:30752175-30753720	IMR90	lung:	n/a	n/a
3	CHD1	chr22:30751997-30752926	GM12878	blood:	n/a	n/a
4	SIN3AK20	chr22:30752160-30753454	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr22:30752073-30753151	GM12892	blood:	n/a	chr22:30752701-30752712 chr22:30752352-30752366 chr22:30753044-30753058 chr22:30752868-30752888
6	POLR2A	chr22:30752110-30753227	GM19193	blood:	n/a	n/a
7	POLR2A	chr22:30752094-30753275	K562	blood:	n/a	n/a
8	REST	chr22:30751974-30753610	H1-neurons	neurons:	n/a	chr22:30753056-30753074
9	POLR2A	chr22:30752109-30753561	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr22:30751893-30753114	GM12891	blood:	n/a	n/a
11	SIN3A	chr22:30752126-30753538	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr22:30751992-30753226	HepG2	liver:	n/a	n/a
13	POLR2A	chr22:30751996-30753653	SK-N-MC	brain:	n/a	n/a
14	E2F4	chr22:30752080-30752192	MCF10A-Er-Src	breast:	n/a	n/a
15	CHD1	chr22:30752158-30752892	H1-hESC	embryonic stem cell:	n/a	n/a
16	MXI1	chr22:30751792-30753683	SK-N-SH	brain:	n/a	chr22:30752996-30753011 chr22:30752994-30753009
17	MTA3	chr22:30751792-30753550	GM12878	blood:	n/a	n/a
18	POLR2A	chr22:30752143-30753160	Raji	blood:	n/a	n/a
19	POLR2A	chr22:30751868-30753332	GM12892	blood:	n/a	n/a
20	POLR2A	chr22:30752088-30753356	Hela-S3	cervix:	n/a	n/a
21	SIN3AK20	chr22:30752174-30753504	MCF-7	breast:	n/a	n/a
22	TAF1	chr22:30752161-30753536	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr22:30752037-30752316	GM12878	blood:	n/a	n/a
24	POLR2A	chr22:30751987-30753262	HepG2	liver:	n/a	n/a
25	POLR2A	chr22:30752076-30753041	GM12891	blood:	n/a	n/a
26	POLR2A	chr22:30751852-30753266	Hela-S3	cervix:	n/a	n/a
27	BCLAF1	chr22:30752145-30753173	GM12878	blood:	n/a	chr22:30753045-30753058 chr22:30752924-30752933 chr22:30753004-30753017 chr22:30752696-30752709 chr22:30753149-30753158 chr22:30752701-30752710
28	YY1	chr22:30752022-30753222	H1-hESC	embryonic stem cell:	n/a	chr22:30752701-30752712 chr22:30752352-30752366 chr22:30753044-30753058 chr22:30752868-30752888
29	POLR2A	chr22:30751859-30753121	GM12878	blood:	n/a	n/a
30	POLR2A	chr22:30752024-30753332	IMR90	lung:	n/a	n/a
31	POLR2A	chr22:30751995-30753102	GM12878	blood:	n/a	n/a
32	YY1	chr22:30752129-30753144	GM12878	blood:	n/a	chr22:30752701-30752712 chr22:30752352-30752366 chr22:30753044-30753058 chr22:30752868-30752888
33	HCFC1	chr22:30751995-30753352	Hela-S3	cervix:	n/a	n/a
34	CHD1	chr22:30751766-30753648	IMR90	lung:	n/a	n/a
35	POLR2A	chr22:30752152-30753203	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr22:30751882-30753463	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAZ	chr22:30751964-30753378	GM12878	blood:	n/a	n/a
38	MXI1	chr22:30752039-30753666	IMR90	lung:	n/a	chr22:30752996-30753011 chr22:30752994-30753009

No.	Distal block	Cell Line	Cell type
1	chr22:30692983..30695862-chr22:30751814..30754169,4	MCF-7	breast:
2	chr22:30740000..30742543-chr22:30750600..30752817,3	MCF-7	breast:
3	chr22:30722006..30725049-chr22:30749886..30754508,5	K562	blood:
4	chr22:30736285..30738437-chr22:30751447..30754136,2	K562	blood:
5	chr22:30751699..30753468-chr22:30782814..30784590,2	K562	blood:
6	chr22:30682051..30684043-chr22:30751437..30753247,3	MCF-7	breast:
7	chr10:120840013..120840920-chr22:30752127..30753112,2	Hela-S3	cervix:
8	chr22:30720936..30724991-chr22:30750350..30754449,10	MCF-7	breast:
9	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
10	chr22:30681963..30685470-chr22:30751422..30755510,6	K562	blood:
11	chr22:30750563..30752352-chr22:30759520..30761812,2	MCF-7	breast:
12	chr22:30719395..30724233-chr22:30750032..30754717,7	MCF-7	breast:
13	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
14	chr22:30742977..30744840-chr22:30750667..30752552,2	K562	blood:
15	chr22:30750108..30752468-chr22:30775828..30777865,2	MCF-7	breast:
16	chr22:30736285..30738543-chr22:30751447..30754136,3	K562	blood:
17	chr22:30732348..30737677-chr22:30750921..30755238,7	MCF-7	breast:

Variant related genes	Relation type
CCDC157	TF binding region
ENSG00000239282	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000107581	Chromatin interaction
ENSG00000248751	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11089445	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11703916	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11704284	0.91[EUR][1000 genomes]
rs11705056	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11705290	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35092409	0.86[EUR][1000 genomes]
rs41281641	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55721524	0.89[EUR][1000 genomes]
rs56059256	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56147342	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56148580	0.91[EUR][1000 genomes]
rs56186404	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1066179	chr22:30724148-30766466	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr22:30750600-30752200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
2	chr22:30750600-30752600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr22:30750600-30754400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:30750800-30752200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr22:30750800-30752400	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr22:30750800-30752400	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr22:30751000-30752400	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr22:30751000-30752400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr22:30751000-30752400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr22:30751200-30752200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr22:30751200-30752200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:30751200-30752200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr22:30751200-30752200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:30751200-30752200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:30751200-30752200	Flanking Active TSS	Fetal Heart	heart
16	chr22:30751200-30752200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr22:30751200-30752200	Flanking Active TSS	NHEK	skin
18	chr22:30751200-30752200	Flanking Active TSS	Osteobl	bone
19	chr22:30751200-30752400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:30751200-30752400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr22:30751200-30752400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:30751200-30752400	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr22:30751200-30752400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr22:30751200-30752600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr22:30751200-30752600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr22:30751200-30752600	Flanking Active TSS	Colonic Mucosa	Colon
27	chr22:30751200-30752800	Transcr. at gene 5' and 3'	Dnd41	blood
28	chr22:30751200-30753600	Active TSS	Ovary	ovary
29	chr22:30751200-30753600	Active TSS	A549	lung
30	chr22:30751400-30752200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
31	chr22:30751400-30752200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:30751400-30752200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr22:30751400-30752200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr22:30751400-30752200	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr22:30751400-30752200	Flanking Active TSS	Fetal Brain Male	brain
36	chr22:30751400-30752200	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr22:30751400-30752200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr22:30751400-30752200	Flanking Active TSS	HSMMtube	muscle
39	chr22:30751400-30752200	Flanking Active TSS	NH-A	brain
40	chr22:30751400-30752400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr22:30751400-30752400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr22:30751400-30752400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr22:30751400-30752400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr22:30751400-30752400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr22:30751400-30752400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr22:30751400-30752400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr22:30751400-30752400	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr22:30751400-30752400	Flanking Active TSS	Liver	Liver
49	chr22:30751400-30752400	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr22:30751400-30752400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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