Variant report

Variant	rs3186873
Chromosome Location	chr1:165693539-165693540
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	chr1:165680183..165682740-chr1:165693137..165696252,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10800152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10918276	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs10918281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12723198	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs14223	0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1913846	0.89[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs1999992	0.84[CHB][hapmap]
rs2814470	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs28475591	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4366297	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4656462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4657470	0.84[CHB][hapmap]
rs6426937	0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs6426940	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs6656194	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs6670705	0.82[ASN][1000 genomes]
rs6679238	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7411708	0.89[CHB][hapmap]

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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165685200-165695400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:165685200-165696600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:165685200-165721600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:165685600-165705200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:165687000-165695200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:165687600-165694400	Weak transcription	Liver	Liver
7	chr1:165687600-165694400	Weak transcription	Placenta	Placenta
8	chr1:165687600-165694600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:165687600-165694800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:165687600-165694800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:165687600-165694800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:165687600-165695000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:165687600-165695200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:165687600-165695200	Weak transcription	NHDF-Ad	bronchial
15	chr1:165687600-165695400	Weak transcription	Osteobl	bone
16	chr1:165687600-165695600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:165687600-165695600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:165687600-165695600	Weak transcription	Fetal Thymus	thymus
19	chr1:165687600-165695800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:165687600-165696200	Weak transcription	NHLF	lung
21	chr1:165687600-165696800	Weak transcription	GM12878-XiMat	blood
22	chr1:165687600-165705000	Weak transcription	Thymus	Thymus
23	chr1:165687600-165706000	Weak transcription	HepG2	liver
24	chr1:165687600-165709800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:165687600-165709800	Weak transcription	HUVEC	blood vessel
26	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:165687800-165695200	Weak transcription	Dnd41	blood
28	chr1:165687800-165695600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:165687800-165695800	Weak transcription	K562	blood
30	chr1:165687800-165696200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:165687800-165707000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:165687800-165709800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:165688000-165695000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:165688400-165695200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:165688800-165695400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:165688800-165695600	Weak transcription	HSMMtube	muscle
37	chr1:165689000-165695600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:165689200-165696400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:165689200-165696400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:165690200-165710800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:165691000-165694600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr1:165691000-165710000	Weak transcription	Fetal Kidney	kidney
43	chr1:165691200-165695600	Weak transcription	Primary B cells from cord blood	blood
44	chr1:165691600-165693800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:165691800-165694800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:165692000-165694800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:165692200-165694400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:165692200-165696000	Weak transcription	HMEC	breast
49	chr1:165692200-165697000	Weak transcription	Lung	lung
50	chr1:165692600-165694400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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