Variant report

Variant	rs757870
Chromosome Location	chr22:30776419-30776420
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	POLR2A	chr22:30776415-30776503	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30750108..30752468-chr22:30775828..30777865,2	MCF-7	breast:
2	chr22:30772557..30775674-chr22:30775726..30779748,4	K562	blood:
3	chr22:30768440..30770271-chr22:30776012..30778960,2	K562	blood:
4	chr22:30775755..30777572-chr22:30777818..30782197,3	K562	blood:

Variant related genes	Relation type
ENSG00000241528	TF binding region
RNF215	TF binding region
ENSG00000241528	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000099999	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12106618	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1476659	0.81[CEU][hapmap]
rs2018514	0.82[AMR][1000 genomes]
rs2072157	0.81[CEU][hapmap]
rs2074651	0.83[CEU][hapmap]
rs2074732	0.95[CEU][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240422	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2283865	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2283868	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2283869	0.82[AMR][1000 genomes]
rs28523826	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4820003	0.91[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4820010	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5753083	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753092	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753093	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753109	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753117	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs5997605	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5997628	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997629	0.81[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5997641	0.81[CEU][hapmap];0.81[AMR][1000 genomes]
rs7292744	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73390209	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs757660	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs8138401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30753200-30782200	Weak transcription	Stomach Mucosa	stomach
2	chr22:30753400-30777000	Weak transcription	Aorta	Aorta
3	chr22:30753600-30779200	Weak transcription	Left Ventricle	heart
4	chr22:30753600-30779400	Weak transcription	NHEK	skin
5	chr22:30753600-30779600	Weak transcription	NH-A	brain
6	chr22:30753600-30782000	Weak transcription	Colonic Mucosa	Colon
7	chr22:30753600-30782000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr22:30753600-30782200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr22:30753600-30782400	Weak transcription	Primary T cells from cord blood	blood
10	chr22:30754200-30779200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:30754200-30782000	Weak transcription	Fetal Brain Male	brain
12	chr22:30759600-30782200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr22:30762000-30782400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr22:30764000-30782200	Weak transcription	Right Atrium	heart
15	chr22:30766400-30782200	Weak transcription	Fetal Kidney	kidney
16	chr22:30767200-30779400	Weak transcription	HSMM	muscle
17	chr22:30767400-30779600	Weak transcription	HSMMtube	muscle
18	chr22:30768600-30781800	Strong transcription	Fetal Stomach	stomach
19	chr22:30769200-30782200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr22:30769200-30782200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:30769600-30780400	Strong transcription	Fetal Brain Female	brain
22	chr22:30770000-30779200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr22:30770200-30781200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr22:30770400-30779600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:30770400-30780600	Strong transcription	Fetal Intestine Small	intestine
26	chr22:30770400-30780800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr22:30771200-30780400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:30771200-30780600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:30771200-30780600	Strong transcription	Brain Germinal Matrix	brain
30	chr22:30771200-30781000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr22:30771400-30777400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr22:30771400-30780800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:30771600-30780600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr22:30771600-30780800	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr22:30772000-30780800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr22:30772000-30783000	Weak transcription	Small Intestine	intestine
37	chr22:30772200-30780800	Strong transcription	Fetal Muscle Leg	muscle
38	chr22:30772200-30782000	Weak transcription	NHDF-Ad	bronchial
39	chr22:30772600-30777600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr22:30772600-30778000	Strong transcription	Esophagus	oesophagus
41	chr22:30772600-30780400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:30772600-30780400	Strong transcription	Placenta	Placenta
43	chr22:30772600-30780800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr22:30772600-30780800	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr22:30772800-30778000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr22:30772800-30780200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr22:30772800-30780400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr22:30772800-30780400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr22:30773000-30777400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr22:30773000-30778200	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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