Variant report

Variant	rs7606163
Chromosome Location	chr2:190031099-190031100
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	chr2:190029422..190031666-chr2:190149954..190151681,2	MCF-7	breast:
2	chr2:190030141..190032156-chr2:190304777..190307765,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115368	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10190073	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10210890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10211173	1.00[AMR][1000 genomes]
rs10931399	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12693529	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13014478	0.83[YRI][hapmap];0.95[AFR][1000 genomes]
rs1399990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1515863	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs1519180	1.00[AMR][1000 genomes]
rs1818585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2037170	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2037171	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34556340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34606082	1.00[AMR][1000 genomes]
rs3914569	1.00[AMR][1000 genomes]
rs57449412	1.00[AMR][1000 genomes]
rs57484527	1.00[AMR][1000 genomes]
rs58082189	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58624621	1.00[AMR][1000 genomes]
rs59784139	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61325916	1.00[AMR][1000 genomes]
rs61621835	1.00[AMR][1000 genomes]
rs6434329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6434331	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6434332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6434333	1.00[AMR][1000 genomes]
rs6434336	1.00[AMR][1000 genomes]
rs6706066	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978807	1.00[AMR][1000 genomes]
rs73978813	1.00[AMR][1000 genomes]
rs73978814	1.00[AMR][1000 genomes]
rs73978816	1.00[AMR][1000 genomes]
rs73978826	1.00[AMR][1000 genomes]
rs73978829	1.00[AMR][1000 genomes]
rs73981483	1.00[AMR][1000 genomes]
rs7578627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7594988	1.00[AMR][1000 genomes]
rs939156	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190019600-190040000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:190021000-190031400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:190026600-190032000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:190027600-190032000	Enhancers	Fetal Lung	lung
5	chr2:190027800-190031400	Enhancers	NH-A	brain
6	chr2:190028000-190032800	Enhancers	NHLF	lung
7	chr2:190028400-190033800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:190028800-190034200	Enhancers	Liver	Liver
9	chr2:190029000-190031200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:190029000-190031400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:190029000-190033600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:190029000-190037200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:190029200-190031200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:190029200-190033600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:190029400-190040800	Weak transcription	Fetal Kidney	kidney
16	chr2:190029400-190042200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:190029600-190032600	Enhancers	Fetal Muscle Leg	muscle
18	chr2:190029600-190043400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:190029800-190031400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:190029800-190031400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:190029800-190031400	Weak transcription	HMEC	breast
22	chr2:190029800-190033600	Enhancers	A549	lung
23	chr2:190029800-190036800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:190029800-190043200	Weak transcription	Psoas Muscle	Psoas
25	chr2:190030000-190032000	Genic enhancers	HSMM	muscle
26	chr2:190030000-190036600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:190030000-190041200	Weak transcription	HUVEC	blood vessel
28	chr2:190030200-190031400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:190030200-190031400	Genic enhancers	Osteobl	bone
30	chr2:190030200-190034400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:190030200-190041200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:190030400-190031400	Weak transcription	Ovary	ovary
33	chr2:190030400-190036600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:190030400-190043400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:190030600-190031400	Weak transcription	Adipose Nuclei	Adipose
36	chr2:190030600-190032200	Enhancers	Colon Smooth Muscle	Colon
37	chr2:190030600-190033600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:190030600-190033600	Weak transcription	Fetal Stomach	stomach
39	chr2:190030600-190033800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:190030600-190033800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:190030800-190031400	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr2:190030800-190031600	Enhancers	Aorta	Aorta
43	chr2:190030800-190032000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:190030800-190032000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:190030800-190032000	Flanking Active TSS	NHDF-Ad	bronchial
46	chr2:190030800-190032200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:190031000-190031600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:190031000-190032000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:190031000-190032200	Enhancers	HSMMtube	muscle

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