Variant report

Variant	rs73594958
Chromosome Location	chr6:144698705-144698706
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	chr6:144687742..144689243-chr6:144697539..144700530,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11965388	1.00[ASN][1000 genomes]
rs12664421	0.98[EUR][1000 genomes]
rs12665269	0.93[EUR][1000 genomes]
rs56820385	0.98[AFR][1000 genomes]
rs58104509	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58108287	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58231767	1.00[ASN][1000 genomes]
rs59862970	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61269020	1.00[ASN][1000 genomes]
rs6570623	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570625	0.83[ASN][1000 genomes]
rs6901521	0.83[ASN][1000 genomes]
rs6904291	0.83[ASN][1000 genomes]
rs6917034	0.93[EUR][1000 genomes]
rs73592865	1.00[AFR][1000 genomes]
rs73594934	0.98[AFR][1000 genomes]
rs73594960	0.93[EUR][1000 genomes]
rs73594967	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73594985	0.94[AFR][1000 genomes]
rs7746584	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7746600	1.00[ASN][1000 genomes]
rs7756188	1.00[AFR][1000 genomes]
rs7763097	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7765364	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770411	0.98[EUR][1000 genomes]
rs9496948	0.93[EUR][1000 genomes]
rs9496949	0.93[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	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144673400-144699600	Weak transcription	Fetal Stomach	stomach
2	chr6:144681800-144699600	Weak transcription	Esophagus	oesophagus
3	chr6:144683600-144699600	Weak transcription	Ovary	ovary
4	chr6:144683800-144704600	Weak transcription	Aorta	Aorta
5	chr6:144684800-144699200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:144686600-144699600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:144686600-144700800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:144690800-144712800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:144691600-144713800	Weak transcription	Thymus	Thymus
10	chr6:144692200-144701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:144692400-144702000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:144692400-144702200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr6:144693200-144699800	Weak transcription	GM12878-XiMat	blood
14	chr6:144694800-144699400	Weak transcription	NHEK	skin
15	chr6:144695000-144700000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:144695600-144698800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr6:144695600-144699800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:144696000-144699000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr6:144696400-144699000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr6:144696400-144701200	Strong transcription	Primary B cells from cord blood	blood
21	chr6:144696600-144699600	Weak transcription	Dnd41	blood
22	chr6:144697000-144698800	Weak transcription	Small Intestine	intestine
23	chr6:144697000-144699400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr6:144697000-144700000	Weak transcription	Brain Substantia Nigra	brain
25	chr6:144697000-144714800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:144697200-144699200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:144697200-144699600	Weak transcription	Fetal Intestine Small	intestine
28	chr6:144697200-144699600	Weak transcription	Pancreas	Pancrea
29	chr6:144697200-144700400	Weak transcription	Lung	lung
30	chr6:144697200-144732600	Weak transcription	Gastric	stomach
31	chr6:144697400-144700800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:144697400-144701400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr6:144698000-144701200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr6:144698200-144698800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:144698200-144699200	Enhancers	Primary T cells from cord blood	blood
36	chr6:144698200-144699200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:144698200-144699800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr6:144698200-144700800	Enhancers	Psoas Muscle	Psoas
39	chr6:144698200-144700800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr6:144698200-144700800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr6:144698200-144701000	Enhancers	Fetal Heart	heart
42	chr6:144698200-144701200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:144698200-144701400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr6:144698400-144698800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:144698400-144699000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:144698400-144699000	Enhancers	Colon Smooth Muscle	Colon
47	chr6:144698400-144699000	Enhancers	Fetal Thymus	thymus
48	chr6:144698400-144699000	Flanking Active TSS	HUVEC	blood vessel
49	chr6:144698400-144699000	Enhancers	NH-A	brain
50	chr6:144698400-144699000	Flanking Active TSS	Osteobl	bone

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