Variant report

Variant	rs2142888
Chromosome Location	chr6:119509870-119509871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119506495..119510474-chr6:119512105..119518415,7	K562	blood:
2	chr6:119509157..119512437-chr6:119515182..119517174,3	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1008471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1008472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1008473	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1012510	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11153794	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11153795	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13200504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2064159	0.99[ASN][1000 genomes]
rs2072888	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072889	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072890	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072891	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072892	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072893	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281124	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299872	0.99[AFR][1000 genomes]
rs2299873	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299874	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299875	0.99[ASN][1000 genomes]
rs3734384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798603	0.99[ASN][1000 genomes]
rs3822996	0.97[ASN][1000 genomes]
rs4946402	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946403	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946405	0.97[ASN][1000 genomes]
rs6569055	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6900636	0.80[ASN][1000 genomes]
rs6904984	0.94[ASN][1000 genomes]
rs6906482	0.83[ASN][1000 genomes]
rs6917694	0.99[AFR][1000 genomes]
rs6918295	0.97[ASN][1000 genomes]
rs6927044	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs726727	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9320681	0.97[AFR][1000 genomes]
rs9372524	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9387640	0.85[AFR][1000 genomes]
rs970181	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv886571	chr6:119494199-119517239	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119491800-119531200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:119492200-119527800	Weak transcription	NHEK	skin
3	chr6:119492400-119524200	Weak transcription	Fetal Stomach	stomach
4	chr6:119493600-119518000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:119494000-119523600	Weak transcription	GM12878-XiMat	blood
6	chr6:119494600-119547400	Weak transcription	Esophagus	oesophagus
7	chr6:119494800-119526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:119495400-119522000	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:119495600-119522200	Weak transcription	Fetal Kidney	kidney
10	chr6:119497000-119512600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:119497000-119524000	Weak transcription	NHLF	lung
12	chr6:119497000-119524400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:119497000-119524400	Weak transcription	Small Intestine	intestine
14	chr6:119497200-119518600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:119498000-119536600	Weak transcription	Fetal Heart	heart
16	chr6:119498200-119527400	Strong transcription	Liver	Liver
17	chr6:119498600-119517600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:119498600-119531400	Strong transcription	HepG2	liver
19	chr6:119498800-119526800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:119499000-119517200	Strong transcription	Primary hematopoietic stem cells	blood
21	chr6:119499400-119516200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:119499400-119518200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:119499400-119525400	Weak transcription	NH-A	brain
24	chr6:119499600-119524000	Weak transcription	Brain Anterior Caudate	brain
25	chr6:119499800-119524400	Weak transcription	Right Ventricle	heart
26	chr6:119500800-119515800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:119501200-119522200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:119501600-119513200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:119501600-119515000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr6:119501600-119518000	Weak transcription	Thymus	Thymus
31	chr6:119501600-119524200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr6:119502000-119510000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr6:119502000-119515400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr6:119502000-119523800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:119502000-119523800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr6:119502400-119525800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:119502600-119526800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr6:119503200-119512000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:119503400-119539800	Weak transcription	Gastric	stomach
40	chr6:119503800-119524200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr6:119504200-119515400	Strong transcription	Fetal Intestine Large	intestine
42	chr6:119504400-119511200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:119504600-119519400	Strong transcription	Adipose Nuclei	Adipose
44	chr6:119504800-119515200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr6:119505200-119515400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr6:119505200-119527400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:119505400-119510000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:119505400-119518800	Weak transcription	Brain Substantia Nigra	brain
49	chr6:119505600-119518600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:119505800-119524000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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