Variant report

Variant	rs1970468
Chromosome Location	chr10:22096529-22096530
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:21785208..21787872-chr10:22095113..22097094,2	K562	blood:
2	chr10:22089631..22092137-chr10:22094287..22097261,4	K562	blood:
3	chr10:22095782..22097515-chr10:22188651..22190331,2	K562	blood:
4	chr10:22086256..22088772-chr10:22096451..22099042,2	K562	blood:
5	chr10:21812518..21815054-chr10:22094822..22097668,3	K562	blood:
6	chr10:22094235..22096912-chr10:23343013..23344752,2	K562	blood:

Variant related genes	Relation type
ENSG00000222071	Chromatin interaction
ENSG00000180592	Chromatin interaction
ENSG00000204682	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10430587	0.86[AMR][1000 genomes]
rs2666751	0.94[AMR][1000 genomes]
rs2666755	0.85[AMR][1000 genomes]
rs2807972	0.88[AMR][1000 genomes]
rs2807977	0.94[AMR][1000 genomes]
rs993995	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052464	chr10:21856531-22220087	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv1802317	chr10:21866085-22288132	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv894947	chr10:21869609-22117913	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv3389523	chr10:22074995-22097153	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1793816	chr10:22088054-22285371	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22048000-22109000	Weak transcription	Ovary	ovary
2	chr10:22048400-22099200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr10:22048800-22114000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:22066000-22113000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:22074200-22105200	Weak transcription	Lung	lung
6	chr10:22074400-22099200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:22074800-22099000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:22074800-22100800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr10:22074800-22123200	Weak transcription	Left Ventricle	heart
10	chr10:22085600-22102800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr10:22086200-22099200	Weak transcription	HSMM	muscle
12	chr10:22086800-22102000	Weak transcription	Pancreas	Pancrea
13	chr10:22087000-22102000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:22087400-22102800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr10:22087400-22103000	Weak transcription	Primary B cells from cord blood	blood
16	chr10:22087600-22098600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr10:22087800-22102400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr10:22087800-22110600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:22088000-22097600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:22088000-22099200	Weak transcription	Fetal Brain Male	brain
21	chr10:22088400-22102600	Weak transcription	Liver	Liver
22	chr10:22089400-22099000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr10:22091400-22110000	Weak transcription	Right Ventricle	heart
24	chr10:22091600-22102400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:22092600-22100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr10:22093000-22100200	Weak transcription	GM12878-XiMat	blood
27	chr10:22094400-22096800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:22094400-22096800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:22094400-22097800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr10:22094800-22103800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr10:22095000-22097400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr10:22095000-22099200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:22095000-22104400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr10:22095000-22114200	Weak transcription	Fetal Lung	lung
35	chr10:22095400-22097800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr10:22095600-22096600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:22095600-22096600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr10:22095600-22096800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr10:22095800-22096600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr10:22095800-22096600	Enhancers	Brain Germinal Matrix	brain
41	chr10:22095800-22097000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr10:22095800-22097000	Flanking Active TSS	K562	blood
43	chr10:22095800-22097600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr10:22096000-22096600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr10:22096000-22096600	Enhancers	Primary T cells from cord blood	blood
46	chr10:22096000-22096600	Enhancers	Fetal Heart	heart
47	chr10:22096200-22096600	Enhancers	Aorta	Aorta
48	chr10:22096200-22096600	Enhancers	Gastric	stomach
49	chr10:22096200-22096600	Enhancers	Osteobl	bone
50	chr10:22096200-22097800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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