Variant report

Variant	rs2119124
Chromosome Location	chr2:174058137-174058138
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	chr2:174055885..174057518-chr2:174057984..174059551,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10169914	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs12465665	1.00[EUR][1000 genomes]
rs12996371	0.84[CHB][hapmap]
rs16861266	0.84[CHB][hapmap];0.94[EUR][1000 genomes]
rs16861269	0.94[EUR][1000 genomes]
rs16861279	0.88[CHB][hapmap];0.83[JPT][hapmap];0.94[EUR][1000 genomes]
rs16861295	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16861304	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16861323	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16861406	0.82[JPT][hapmap]
rs2053964	0.85[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.94[EUR][1000 genomes]
rs2119123	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs2289395	0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3739103	0.81[AMR][1000 genomes]
rs3754738	0.81[AMR][1000 genomes]
rs3769152	0.80[CHB][hapmap]
rs3769154	0.82[JPT][hapmap]
rs3769155	0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs3769164	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3769166	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3769175	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769176	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs3769179	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3769183	1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3769190	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs3769206	0.85[CHB][hapmap];0.94[EUR][1000 genomes]
rs3769208	0.94[EUR][1000 genomes]
rs3820832	0.81[AMR][1000 genomes]
rs4632313	0.84[CHB][hapmap];0.84[JPT][hapmap];0.94[EUR][1000 genomes]
rs4972538	0.82[JPT][hapmap]
rs56676752	0.89[EUR][1000 genomes]
rs58407376	0.98[ASN][1000 genomes]
rs59935415	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61032750	0.94[EUR][1000 genomes]
rs61183795	0.96[ASN][1000 genomes]
rs6717067	0.97[ASN][1000 genomes]
rs6753354	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs73971702	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7566222	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7571788	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
3	chr2:174046400-174075800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:174047000-174062800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:174047600-174060800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:174047600-174062800	Weak transcription	GM12878-XiMat	blood
7	chr2:174047800-174065800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
9	chr2:174049000-174070600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:174049200-174070200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
12	chr2:174049400-174058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:174049400-174060600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:174049400-174060800	Weak transcription	Lung	lung
15	chr2:174049400-174060800	Weak transcription	Right Ventricle	heart
16	chr2:174049400-174078200	Weak transcription	HUVEC	blood vessel
17	chr2:174049600-174062800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:174049600-174074400	Weak transcription	Fetal Stomach	stomach
19	chr2:174049600-174079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:174049800-174062600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:174050200-174062800	Weak transcription	HepG2	liver
22	chr2:174051600-174065200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:174052000-174059600	Weak transcription	Aorta	Aorta
24	chr2:174052000-174063000	Weak transcription	Placenta	Placenta
25	chr2:174052800-174058600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:174052800-174063200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:174053000-174065400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:174053200-174058400	Weak transcription	HSMM	muscle
29	chr2:174053400-174060800	Weak transcription	Fetal Intestine Small	intestine
30	chr2:174053400-174062800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:174053400-174072000	Weak transcription	Right Atrium	heart
32	chr2:174053400-174075600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:174053400-174078400	Weak transcription	Gastric	stomach
34	chr2:174053400-174082000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
36	chr2:174053600-174058600	Weak transcription	NHLF	lung
37	chr2:174053600-174062800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:174054000-174058800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr2:174054200-174058800	Strong transcription	Fetal Intestine Large	intestine
40	chr2:174054400-174058400	Strong transcription	Liver	Liver
41	chr2:174054600-174058400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:174054600-174059000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:174054600-174061800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr2:174054800-174058400	Strong transcription	Dnd41	blood
45	chr2:174054800-174062800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:174055000-174065000	Weak transcription	Primary T cells from cord blood	blood
47	chr2:174055200-174059600	Weak transcription	Psoas Muscle	Psoas
48	chr2:174055400-174064800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:174055800-174060600	Enhancers	Rectal Smooth Muscle	rectum
50	chr2:174055800-174061800	Enhancers	HUES48 Cell Line	embryonic stem cell

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