Variant report

Variant	rs1352068
Chromosome Location	chr4:147216828-147216829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147204351..147205909-chr4:147214280..147217001,2	K562	blood:
2	chr4:147209226..147212026-chr4:147214111..147217530,3	MCF-7	breast:
3	chr4:147215452..147218404-chr4:147220056..147222242,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10023228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13114641	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13121951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1352066	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1485950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2244306	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2356822	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2630276	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2630279	1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2630283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2630287	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2679122	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2679129	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2679133	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2679137	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2679138	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2679139	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2679152	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4092340	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4103540	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4407528	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4516736	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4835032	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4835300	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6537412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537413	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852118	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6857518	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7670877	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7682719	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7686137	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7691153	0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs923164	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308200	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9784489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking 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	11 gene(s)	inside rSNPs	diseases
3	nsv819040	chr4:147212242-147217906	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147167000-147217600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:147174800-147218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:147179400-147217200	Weak transcription	Left Ventricle	heart
6	chr4:147180400-147233200	Weak transcription	Liver	Liver
7	chr4:147198000-147224000	Weak transcription	Fetal Intestine Small	intestine
8	chr4:147201000-147224800	Weak transcription	HMEC	breast
9	chr4:147201000-147225400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:147201000-147249600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:147204000-147220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:147205800-147217600	Weak transcription	Fetal Brain Female	brain
13	chr4:147206200-147217600	Weak transcription	Fetal Brain Male	brain
14	chr4:147206200-147225400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:147206800-147218000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:147207600-147226600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:147208200-147217000	Weak transcription	Fetal Kidney	kidney
18	chr4:147208200-147219200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:147208200-147220600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr4:147208200-147232800	Weak transcription	Aorta	Aorta
21	chr4:147208200-147234200	Weak transcription	Lung	lung
22	chr4:147208200-147247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:147208400-147221600	Weak transcription	Pancreas	Pancrea
24	chr4:147208400-147222400	Weak transcription	Esophagus	oesophagus
25	chr4:147208400-147224000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:147208400-147228400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:147208400-147249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:147208400-147254600	Weak transcription	Gastric	stomach
29	chr4:147208600-147254800	Weak transcription	Adipose Nuclei	Adipose
30	chr4:147209000-147217200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:147209200-147249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:147209400-147225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:147209400-147227800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr4:147209400-147245600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:147209600-147222000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr4:147209600-147225400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:147209600-147229200	Weak transcription	Ovary	ovary
38	chr4:147209800-147222600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr4:147210400-147227800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:147212000-147220600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr4:147212800-147229400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:147212800-147264200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr4:147213400-147223600	Weak transcription	GM12878-XiMat	blood
44	chr4:147213600-147225400	Weak transcription	Primary B cells from cord blood	blood
45	chr4:147215600-147254800	Weak transcription	Primary T cells from cord blood	blood

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