Variant report

Variant	rs538337
Chromosome Location	chr1:184808581-184808582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184807490..184809142-chr1:184832386..184834828,2	MCF-7	breast:
2	chr1:184808544..184811513-chr1:184821245..184823009,2	K562	blood:
3	chr1:184792419..184794231-chr1:184807595..184809855,2	K562	blood:
4	chr1:184808544..184812531-chr1:184819592..184823009,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10911637	1.00[JPT][hapmap]
rs12094196	1.00[JPT][hapmap]
rs12096214	1.00[JPT][hapmap]
rs16823413	1.00[JPT][hapmap]
rs35779894	1.00[JPT][hapmap]
rs489435	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs511033	0.91[ASN][1000 genomes]
rs567498	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs569243	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs585186	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs603160	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs641658	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642027	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs657826	0.96[ASN][1000 genomes]
rs668925	1.00[YRI][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:46 , 50 per page) page: 1

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	chr1:184783200-184809200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:184790200-184809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:184792800-184810000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:184793000-184809600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:184793000-184813000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:184793400-184809200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:184795400-184822600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:184797200-184830000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:184800000-184809400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:184800600-184820800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:184801000-184813400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:184801200-184810000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:184801800-184821000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:184805200-184808800	Enhancers	Colon Smooth Muscle	Colon
17	chr1:184805200-184808800	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:184805400-184808600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:184805400-184808800	Enhancers	Fetal Muscle Leg	muscle
20	chr1:184806200-184808800	Enhancers	Psoas Muscle	Psoas
21	chr1:184806600-184810000	Weak transcription	Fetal Kidney	kidney
22	chr1:184806600-184812600	Weak transcription	GM12878-XiMat	blood
23	chr1:184806800-184808600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:184807800-184808600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:184807800-184808800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:184807800-184808800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:184807800-184821000	Weak transcription	Aorta	Aorta
28	chr1:184808000-184808800	Enhancers	Colonic Mucosa	Colon
29	chr1:184808000-184811000	Weak transcription	Fetal Heart	heart
30	chr1:184808000-184813400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:184808000-184823400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:184808200-184821000	Weak transcription	Left Ventricle	heart
33	chr1:184808200-184821400	Weak transcription	Right Ventricle	heart
34	chr1:184808200-184831400	Weak transcription	Gastric	stomach
35	chr1:184808400-184808800	Enhancers	NHDF-Ad	bronchial
36	chr1:184808400-184809400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:184808400-184809400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:184808400-184811800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:184808400-184812000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:184808400-184812400	Weak transcription	Hela-S3	cervix
41	chr1:184808400-184813000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:184808400-184821000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr1:184808400-184821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:184808400-184823200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr1:184808400-184836000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:184808400-184836000	Weak transcription	NHEK	skin

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