Variant report

Variant	rs6664204
Chromosome Location	chr1:184774829-184774830
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	chr1:184774518..184777163-chr1:184941590..184943842,2	K562	blood:

Variant related genes	Relation type
ENSG00000135842	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs16823452	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823480	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823513	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2181240	1.00[EUR][1000 genomes]
rs234637	1.00[EUR][1000 genomes]
rs234638	1.00[EUR][1000 genomes]
rs234639	1.00[EUR][1000 genomes]
rs234666	1.00[EUR][1000 genomes]
rs234671	1.00[EUR][1000 genomes]
rs234675	1.00[EUR][1000 genomes]
rs2840217	1.00[MEX][hapmap]
rs28521358	1.00[EUR][1000 genomes]
rs35543943	1.00[ASW][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56385425	1.00[EUR][1000 genomes]
rs56707979	1.00[EUR][1000 genomes]
rs56796054	1.00[EUR][1000 genomes]
rs58814142	1.00[EUR][1000 genomes]
rs61372488	1.00[EUR][1000 genomes]
rs6690708	1.00[MEX][hapmap]
rs669649	1.00[EUR][1000 genomes]
rs73046783	1.00[EUR][1000 genomes]
rs73046796	1.00[EUR][1000 genomes]
rs7413163	1.00[EUR][1000 genomes]
rs74132003	1.00[EUR][1000 genomes]
rs74132025	1.00[EUR][1000 genomes]
rs74132034	1.00[EUR][1000 genomes]
rs74132036	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132037	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132038	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132050	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74134139	1.00[EUR][1000 genomes]
rs7520163	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7521888	1.00[EUR][1000 genomes]
rs7526101	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7528332	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7541371	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184756800-184794000	Weak transcription	Thymus	Thymus
2	chr1:184762000-184781600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:184762000-184787800	Weak transcription	Spleen	Spleen
4	chr1:184762200-184775000	Weak transcription	Primary B cells from cord blood	blood
5	chr1:184762200-184775800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:184762400-184775800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:184762400-184789400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:184762600-184792800	Weak transcription	Colonic Mucosa	Colon
9	chr1:184763000-184782800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:184763800-184781200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:184764800-184779000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:184765200-184775000	Weak transcription	Esophagus	oesophagus
13	chr1:184766200-184775000	Weak transcription	Stomach Mucosa	stomach
14	chr1:184766200-184776600	Weak transcription	Fetal Stomach	stomach
15	chr1:184767200-184775200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:184767400-184775200	Weak transcription	Lung	lung
17	chr1:184768000-184809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:184769800-184775000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:184770400-184775600	Weak transcription	Placenta	Placenta
20	chr1:184770800-184775000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:184770800-184775000	Weak transcription	Adipose Nuclei	Adipose
22	chr1:184770800-184775000	Weak transcription	Fetal Heart	heart
23	chr1:184770800-184775000	Weak transcription	K562	blood
24	chr1:184770800-184775200	Weak transcription	Pancreas	Pancrea
25	chr1:184770800-184776600	Weak transcription	Right Ventricle	heart
26	chr1:184770800-184777000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:184770800-184787000	Weak transcription	Gastric	stomach
28	chr1:184771400-184775000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr1:184771800-184782800	Weak transcription	NHLF	lung
30	chr1:184772000-184792000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:184772400-184775000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:184772400-184801800	Weak transcription	Primary T cells from cord blood	blood
33	chr1:184772600-184775000	Weak transcription	Hela-S3	cervix
34	chr1:184772600-184775200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:184772600-184782600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:184772800-184775000	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:184772800-184776800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:184772800-184782600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:184772800-184790600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:184773000-184775000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:184773000-184775000	Weak transcription	GM12878-XiMat	blood
42	chr1:184773000-184775000	Weak transcription	NHDF-Ad	bronchial
43	chr1:184773000-184781800	Weak transcription	NHEK	skin
44	chr1:184773200-184809400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:184773400-184775000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:184773400-184775000	Weak transcription	Liver	Liver
47	chr1:184773400-184775000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:184773400-184775000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:184773400-184775000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:184773400-184777400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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