Variant report

Variant	rs73598012
Chromosome Location	chr6:145175208-145175209
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	chr6:145168696..145171336-chr6:145172610..145175556,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10499238	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17074328	0.91[AFR][1000 genomes]
rs2297848	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55884033	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56039647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56268705	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58627651	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58797562	0.91[AFR][1000 genomes]
rs59324373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60747321	0.87[ASN][1000 genomes]
rs6900570	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6903007	0.91[AFR][1000 genomes]
rs6936275	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6941029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73596379	0.86[AFR][1000 genomes]
rs73596388	0.86[AFR][1000 genomes]
rs73596396	0.91[AFR][1000 genomes]
rs73596560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73598008	0.95[AFR][1000 genomes]
rs73604356	0.91[AFR][1000 genomes]
rs73606408	0.95[AFR][1000 genomes]
rs73779328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7747041	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830833	chr6:145001310-145201143	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv886740	chr6:145105354-145199259	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145137400-145176800	Weak transcription	Fetal Heart	heart
2	chr6:145137800-145175800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr6:145157800-145176400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:145158600-145176800	Weak transcription	Esophagus	oesophagus
5	chr6:145159200-145176600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:145159400-145177400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:145161000-145176000	Weak transcription	Pancreas	Pancrea
8	chr6:145161000-145179000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:145162600-145176400	Weak transcription	Fetal Intestine Large	intestine
10	chr6:145162800-145176600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:145163800-145176200	Weak transcription	Fetal Intestine Small	intestine
12	chr6:145164400-145175800	Strong transcription	Primary B cells from cord blood	blood
13	chr6:145165800-145176600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:145166000-145175400	Weak transcription	Small Intestine	intestine
15	chr6:145166200-145176400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:145167200-145176800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:145167400-145188000	Weak transcription	NHDF-Ad	bronchial
18	chr6:145167800-145176800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr6:145168000-145176000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:145168400-145177000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:145169200-145177200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:145169400-145189400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:145169600-145175400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr6:145169600-145177200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:145169800-145177200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:145170200-145175800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:145170400-145176400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:145170400-145177200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:145170800-145175800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:145172000-145176800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:145172200-145175400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr6:145172200-145176600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:145172200-145176600	Weak transcription	Aorta	Aorta
34	chr6:145172200-145176600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:145172200-145176600	Weak transcription	Spleen	Spleen
36	chr6:145172200-145177200	Weak transcription	HUVEC	blood vessel
37	chr6:145172400-145175800	Weak transcription	Left Ventricle	heart
38	chr6:145172400-145176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:145172400-145176600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr6:145172400-145176600	Weak transcription	Fetal Muscle Leg	muscle
41	chr6:145172400-145177400	Weak transcription	Fetal Stomach	stomach
42	chr6:145172400-145178800	Weak transcription	Lung	lung
43	chr6:145172600-145175400	Weak transcription	NH-A	brain
44	chr6:145172600-145176000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:145172600-145177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:145172800-145176200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr6:145172800-145176400	Weak transcription	Fetal Kidney	kidney
48	chr6:145173200-145176800	Weak transcription	NHLF	lung
49	chr6:145173400-145175600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr6:145173400-145177200	Weak transcription	Primary B cells from peripheral blood	blood

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