Variant report

Variant	rs73477975
Chromosome Location	chr6:80817952-80817953
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	chr6:80816628..80819022-chr6:80824130..80826174,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11961506	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11961937	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11962441	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12110563	0.92[ASN][1000 genomes]
rs1324119	0.85[ASN][1000 genomes]
rs3749896	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3805914	0.92[ASN][1000 genomes]
rs3805915	0.92[ASN][1000 genomes]
rs3805916	0.81[ASN][1000 genomes]
rs3805918	0.92[ASN][1000 genomes]
rs3805923	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3812148	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59155686	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59460144	0.92[ASN][1000 genomes]
rs59516180	0.93[ASN][1000 genomes]
rs66486409	0.88[ASN][1000 genomes]
rs73477974	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73477981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73477985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479907	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479909	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479918	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479932	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73479950	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73479953	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73479968	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73479980	0.92[ASN][1000 genomes]
rs73482011	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73482029	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73482038	0.85[AMR][1000 genomes]
rs742834	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398521	chr6:80816133-80818281	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80815600-80819200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:80815800-80818000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr6:80816800-80836000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:80817000-80818000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr6:80817000-80818000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr6:80817000-80818000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:80817000-80818000	Enhancers	Fetal Intestine Small	intestine
8	chr6:80817000-80822000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:80817000-80822400	Weak transcription	Pancreas	Pancrea
10	chr6:80817000-80838200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:80817000-80852800	Weak transcription	Psoas Muscle	Psoas
12	chr6:80817200-80818000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:80817200-80818000	Flanking Active TSS	Dnd41	blood
14	chr6:80817200-80819200	Weak transcription	Fetal Thymus	thymus
15	chr6:80817400-80818000	Enhancers	Small Intestine	intestine
16	chr6:80817600-80818000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:80817600-80818000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr6:80817600-80818000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr6:80817600-80818000	Enhancers	K562	blood
20	chr6:80817600-80818600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:80817600-80818800	Enhancers	Fetal Heart	heart
22	chr6:80817600-80819800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:80817600-80820400	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:80817600-80821600	Weak transcription	HUVEC	blood vessel
25	chr6:80817600-80822000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:80817600-80822000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:80817600-80822000	Weak transcription	Brain Substantia Nigra	brain
28	chr6:80817600-80822200	Weak transcription	Esophagus	oesophagus
29	chr6:80817600-80822400	Weak transcription	Left Ventricle	heart
30	chr6:80817600-80824600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:80817600-80825400	Weak transcription	Fetal Stomach	stomach
32	chr6:80817600-80828400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:80817600-80832200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:80817600-80836000	Weak transcription	HSMM	muscle
35	chr6:80817600-80838200	Weak transcription	Aorta	Aorta
36	chr6:80817600-80842000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr6:80817600-80842400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:80817800-80818000	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr6:80817800-80818000	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr6:80817800-80818000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:80817800-80818000	Enhancers	Fetal Lung	lung
42	chr6:80817800-80818000	Active TSS	Rectal Smooth Muscle	rectum
43	chr6:80817800-80818000	Flanking Active TSS	GM12878-XiMat	blood
44	chr6:80817800-80818000	Enhancers	Hela-S3	cervix
45	chr6:80817800-80818000	Enhancers	HepG2	liver
46	chr6:80817800-80818000	Enhancers	HMEC	breast
47	chr6:80817800-80818200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:80817800-80818400	Enhancers	Liver	Liver
49	chr6:80817800-80819200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr6:80817800-80821000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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