Variant report

Variant	rs4274099
Chromosome Location	chr1:197563701-197563702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197561680..197564518-chr1:198126144..198127682,2	K562	blood:
2	chr1:197554792..197556654-chr1:197563284..197565204,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151414	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10754228	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10801620	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10922231	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10922236	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs10922252	0.89[ASN][1000 genomes]
rs10922259	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10922260	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10922266	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1135810	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs12042609	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs12066841	0.84[ASN][1000 genomes]
rs12081207	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs1345529	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1923759	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs1998711	1.00[ASN][1000 genomes]
rs2111930	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2111934	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4026508	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4026513	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4026514	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4282851	0.96[ASN][1000 genomes]
rs4604725	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4611052	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4915561	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs55995691	0.82[ASN][1000 genomes]
rs6428416	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6667685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675292	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs6688289	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6691216	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7516153	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7516334	0.81[ASN][1000 genomes]
rs7516481	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7523627	0.99[ASN][1000 genomes]
rs7533766	0.86[ASN][1000 genomes]
rs7534863	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs7548454	0.96[ASN][1000 genomes]
rs927510	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9633354	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9787082	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

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	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv548872	chr1:197529218-197644581	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873076	chr1:197529218-197689967	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv3397065	chr1:197545083-197637033	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197506800-197564600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:197508400-197602400	Weak transcription	Left Ventricle	heart
3	chr1:197537000-197574600	Weak transcription	NHDF-Ad	bronchial
4	chr1:197537400-197602200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:197537800-197585600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:197541800-197566000	Weak transcription	Ovary	ovary
7	chr1:197541800-197602400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:197541800-197602600	Weak transcription	Fetal Thymus	thymus
9	chr1:197542000-197568000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:197542000-197569200	Weak transcription	Pancreas	Pancrea
11	chr1:197542000-197571400	Weak transcription	Esophagus	oesophagus
12	chr1:197542000-197574400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:197542000-197609000	Weak transcription	Colonic Mucosa	Colon
14	chr1:197542000-197626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:197544400-197602400	Weak transcription	Primary B cells from cord blood	blood
16	chr1:197544600-197570000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:197545600-197567400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:197547000-197587200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:197547400-197602400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:197547600-197566200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:197548600-197569400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:197551400-197585600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:197553000-197583800	Weak transcription	Primary T cells from cord blood	blood
24	chr1:197553000-197585400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:197553000-197629800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:197553200-197564000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:197557000-197564200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:197558800-197565000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:197560200-197566000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:197560200-197585400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:197560200-197591400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:197561200-197584400	Weak transcription	Liver	Liver
33	chr1:197561200-197585400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:197561400-197589800	Weak transcription	Fetal Intestine Large	intestine
35	chr1:197562000-197563800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:197563000-197565000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:197563000-197565200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:197563200-197563800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:197563200-197564400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr1:197563200-197564800	Strong transcription	Dnd41	blood
41	chr1:197563400-197564600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:197563600-197564600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:197563600-197565800	Weak transcription	Fetal Heart	heart

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