Variant report

Variant	rs3737948
Chromosome Location	chr1:184853849-184853850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184848626..184851151-chr1:184851395..184854029,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12045533	1.00[GIH][hapmap]
rs12073168	1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16823461	1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823601	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[EUR][1000 genomes]
rs16823603	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs16823613	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823651	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16823734	1.00[GIH][hapmap]
rs2273851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234669	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs3737953	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs3737954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6662843	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
6	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184816800-184874200	Weak transcription	Esophagus	oesophagus
2	chr1:184831400-184874200	Weak transcription	Lung	lung
3	chr1:184837200-184858400	Weak transcription	K562	blood
4	chr1:184837200-184859800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:184837200-184869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:184838000-184859200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:184839800-184858600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:184840000-184858200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:184843000-184866800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:184844200-184874200	Weak transcription	Adipose Nuclei	Adipose
11	chr1:184848400-184854600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:184849800-184855200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:184850000-184855200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:184850400-184854000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:184851200-184857000	Weak transcription	Psoas Muscle	Psoas
16	chr1:184851400-184854600	Weak transcription	Right Atrium	heart
17	chr1:184851600-184854000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:184851600-184854200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr1:184851600-184859600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:184852000-184854200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:184852000-184854600	Weak transcription	Left Ventricle	heart
22	chr1:184852000-184855400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:184852000-184855400	Weak transcription	NHDF-Ad	bronchial
24	chr1:184852000-184874200	Weak transcription	Spleen	Spleen
25	chr1:184852200-184854000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:184852600-184854200	Genic enhancers	Stomach Smooth Muscle	stomach
27	chr1:184852600-184859000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:184852600-184859600	Weak transcription	Gastric	stomach
29	chr1:184852800-184854000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:184852800-184854200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr1:184852800-184854800	Weak transcription	Fetal Heart	heart
32	chr1:184852800-184855200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:184852800-184855200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:184852800-184855200	Weak transcription	Pancreas	Pancrea
35	chr1:184852800-184855400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:184852800-184856600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:184852800-184857000	Weak transcription	Hela-S3	cervix
38	chr1:184852800-184875800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:184853000-184854400	Weak transcription	Aorta	Aorta
40	chr1:184853000-184855000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:184853000-184855000	Weak transcription	NH-A	brain
42	chr1:184853000-184855400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:184853000-184855600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:184853000-184855600	Weak transcription	HMEC	breast
45	chr1:184853000-184856200	Weak transcription	NHEK	skin
46	chr1:184853000-184857400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr1:184853000-184858600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:184853200-184854000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:184853200-184854000	Strong transcription	Fetal Stomach	stomach
50	chr1:184853400-184854600	Weak transcription	Colon Smooth Muscle	Colon

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