Variant report

Variant	rs603160
Chromosome Location	chr1:184802062-184802063
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	chr1:184796346..184798314-chr1:184799191..184802086,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10911637	1.00[JPT][hapmap]
rs12094196	1.00[JPT][hapmap]
rs12096214	1.00[JPT][hapmap]
rs16823413	1.00[JPT][hapmap]
rs180046	0.89[CEU][hapmap]
rs234110	0.89[CEU][hapmap]
rs234634	0.89[CEU][hapmap]
rs234635	0.89[CEU][hapmap]
rs234647	0.80[EUR][1000 genomes]
rs234651	1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs234652	1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs234653	1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs234654	1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs234656	1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs234680	0.89[CEU][hapmap]
rs234682	0.89[CEU][hapmap]
rs234683	0.89[CEU][hapmap]
rs28927681	1.00[CEU][hapmap]
rs35779894	1.00[JPT][hapmap]
rs41321748	1.00[CEU][hapmap];0.90[GIH][hapmap]
rs489435	1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511033	0.88[ASN][1000 genomes]
rs538337	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs569243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639593	1.00[CEU][hapmap];0.90[GIH][hapmap];0.86[LWK][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs641658	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs642027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657826	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528626	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv508677	chr1:184778620-184825302	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv3843	chr1:184798670-184858114	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184768000-184809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:184773200-184809400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:184783000-184807800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:184783200-184809200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:184783400-184803200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:184786600-184805200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:184790200-184809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:184792200-184805200	Weak transcription	Fetal Intestine Small	intestine
9	chr1:184792800-184805200	Weak transcription	Small Intestine	intestine
10	chr1:184792800-184810000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:184793000-184805000	Weak transcription	K562	blood
12	chr1:184793000-184809600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:184793000-184813000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:184793400-184809200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:184794400-184806200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:184795400-184802400	Weak transcription	Pancreas	Pancrea
17	chr1:184795400-184805800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:184795400-184822600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:184795800-184805400	Weak transcription	Adipose Nuclei	Adipose
20	chr1:184797000-184806200	Weak transcription	Right Ventricle	heart
21	chr1:184797200-184805600	Weak transcription	NHLF	lung
22	chr1:184797200-184830000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:184797600-184805000	Weak transcription	NHDF-Ad	bronchial
24	chr1:184797600-184807800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:184797800-184805200	Weak transcription	GM12878-XiMat	blood
26	chr1:184797800-184807400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:184797800-184807400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:184798000-184803000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:184798000-184807200	Weak transcription	NHEK	skin
30	chr1:184798400-184802800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:184798400-184805200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:184798400-184805200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:184799200-184805400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:184799400-184807600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:184800000-184809400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:184800600-184820800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:184800800-184805200	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:184801000-184805400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:184801000-184805600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:184801000-184813400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:184801200-184805200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:184801200-184807400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:184801200-184807600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr1:184801200-184807800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:184801200-184810000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:184801400-184805400	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:184801400-184806200	Weak transcription	Left Ventricle	heart
48	chr1:184801600-184806400	Weak transcription	Fetal Heart	heart
49	chr1:184801800-184805200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:184801800-184821000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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