Variant report

Variant	rs10755004
Chromosome Location	chr2:190309850-190309851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190307972..190310457-chr2:190436965..190439682,2	K562	blood:
2	chr2:190308951..190311414-chr2:190525622..190528539,2	MCF-7	breast:
3	chr2:190308372..190310331-chr2:190535454..190537876,3	MCF-7	breast:
4	chr2:190307453..190310457-chr2:190438182..190441040,3	K562	blood:

Variant related genes	Relation type
ENSG00000138381	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10187060	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10497700	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10497703	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10931414	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10931415	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10931416	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10931418	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10931419	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1112578	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1157910	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11677066	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11688021	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11691691	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11695159	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12612412	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12613876	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12616234	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12623723	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12987962	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12988143	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12990035	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12990235	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12997620	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13004187	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13010531	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13015203	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13032853	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13033841	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1356977	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1402368	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1520855	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1520857	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1520859	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1520863	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1520864	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1581351	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1851105	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1949604	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1949605	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2119069	0.89[ASN][1000 genomes]
rs2304703	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35997606	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4287797	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4353589	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4666774	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4667281	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6434339	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap]
rs6728055	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6745108	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7419276	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7576165	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs7588453	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7593821	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7596592	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs963738	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9679659	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[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	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
3	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv584062	chr2:190272195-190376493	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190306800-190323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:190306800-190323800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:190306800-190344200	Weak transcription	Esophagus	oesophagus
4	chr2:190307000-190317600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:190307000-190334200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:190307200-190312800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:190307200-190313200	Weak transcription	Fetal Kidney	kidney
8	chr2:190307200-190313400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:190307400-190311800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:190307400-190312200	Weak transcription	Placenta	Placenta
11	chr2:190307400-190312400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:190307400-190312800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:190307400-190312800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:190307400-190313000	Weak transcription	HSMMtube	muscle
15	chr2:190307600-190310000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr2:190307600-190311000	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:190307600-190311400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr2:190307600-190312200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:190307600-190312200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:190307600-190312600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:190307600-190312600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:190307600-190312800	Weak transcription	Brain Anterior Caudate	brain
23	chr2:190307600-190313000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:190307600-190313200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:190307600-190314200	Weak transcription	Brain Germinal Matrix	brain
26	chr2:190307600-190314800	Weak transcription	Left Ventricle	heart
27	chr2:190307600-190314800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:190307600-190315000	Weak transcription	Gastric	stomach
29	chr2:190307600-190316200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:190307600-190316200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:190307600-190316400	Weak transcription	Colonic Mucosa	Colon
32	chr2:190307600-190317000	Weak transcription	Fetal Stomach	stomach
33	chr2:190307600-190317200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:190307600-190317400	Weak transcription	Lung	lung
35	chr2:190307600-190322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:190307600-190323400	Weak transcription	Ovary	ovary
37	chr2:190307600-190330000	Weak transcription	Fetal Heart	heart
38	chr2:190307600-190334200	Weak transcription	Pancreas	Pancrea
39	chr2:190307600-190338200	Weak transcription	Spleen	Spleen
40	chr2:190307600-190342000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:190307600-190342600	Weak transcription	Aorta	Aorta
42	chr2:190307800-190310600	Weak transcription	NHLF	lung
43	chr2:190307800-190311000	Weak transcription	NH-A	brain
44	chr2:190307800-190311200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:190307800-190312000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:190307800-190313000	Weak transcription	Brain Substantia Nigra	brain
47	chr2:190307800-190314000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:190307800-190332400	Weak transcription	Stomach Mucosa	stomach
49	chr2:190308000-190310400	Genic enhancers	Primary T cells from cord blood	blood
50	chr2:190308000-190311800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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