Variant report

Variant	rs4332991
Chromosome Location	chr20:16398542-16398543
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:16283497..16285541-chr20:16396162..16399137,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1012904	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1012905	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1014888	0.85[ASN][1000 genomes]
rs11087166	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1884660	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2144942	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2273425	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4814491	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4814495	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6043937	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6080256	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6105596	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6111101	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6111113	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs761901	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833931	chr20:16308276-16460596	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16372600-16404600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr20:16378000-16404400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr20:16381400-16399200	Weak transcription	HMEC	breast
4	chr20:16384000-16432600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr20:16385200-16404200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr20:16385400-16404200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr20:16386200-16404400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr20:16386400-16398600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr20:16386400-16404200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr20:16387000-16399000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr20:16387000-16399000	Weak transcription	Liver	Liver
12	chr20:16387000-16399000	Weak transcription	Pancreas	Pancrea
13	chr20:16387000-16399400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr20:16387000-16403000	Weak transcription	Fetal Stomach	stomach
15	chr20:16387000-16404200	Weak transcription	Gastric	stomach
16	chr20:16387000-16406400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr20:16387200-16399600	Weak transcription	NHEK	skin
18	chr20:16387400-16404000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr20:16387400-16404400	Weak transcription	Esophagus	oesophagus
20	chr20:16387400-16411800	Weak transcription	Colonic Mucosa	Colon
21	chr20:16388800-16399000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr20:16389600-16404200	Weak transcription	A549	lung
23	chr20:16391000-16401800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr20:16391600-16406400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr20:16391600-16410800	Weak transcription	Thymus	Thymus
26	chr20:16391800-16399200	Weak transcription	Ovary	ovary
27	chr20:16391800-16399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr20:16391800-16404200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr20:16391800-16404400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr20:16391800-16409800	Weak transcription	Brain Angular Gyrus	brain
31	chr20:16391800-16414600	Weak transcription	Colon Smooth Muscle	Colon
32	chr20:16392000-16398800	Weak transcription	Primary B cells from cord blood	blood
33	chr20:16392000-16404200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr20:16392000-16405600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr20:16392000-16406400	Weak transcription	Brain Anterior Caudate	brain
36	chr20:16392000-16407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr20:16392200-16399200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr20:16392200-16404200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr20:16392200-16412800	Weak transcription	Fetal Kidney	kidney
40	chr20:16392200-16453000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr20:16392400-16399200	Weak transcription	Brain Hippocampus Middle	brain
42	chr20:16392400-16404200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr20:16392400-16411600	Weak transcription	Brain Substantia Nigra	brain
44	chr20:16393000-16398800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr20:16393000-16398800	Weak transcription	K562	blood
46	chr20:16393000-16399000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr20:16393000-16399000	Weak transcription	Adipose Nuclei	Adipose
48	chr20:16393000-16399000	Weak transcription	Left Ventricle	heart
49	chr20:16393000-16399800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr20:16393000-16400000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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