Variant report

Variant	rs1057530
Chromosome Location	chr6:64427095-64427096
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	chr6:64420787..64422833-chr6:64423125..64427172,4	K562	blood:
2	chr6:64427028..64430486-chr6:64433539..64436384,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10455430	0.90[ASN][1000 genomes]
rs10485358	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10755432	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10943975	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1212828	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12190601	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12198142	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12205302	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12205984	0.88[ASN][1000 genomes]
rs1575054	0.92[CEU][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs170347	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1825208	0.83[ASN][1000 genomes]
rs1884117	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1889096	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs319920	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.95[YRI][hapmap];0.96[ASN][1000 genomes]
rs319923	0.96[ASN][1000 genomes]
rs319924	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.95[YRI][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs319925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs321491	0.83[ASN][1000 genomes]
rs321494	0.83[ASN][1000 genomes]
rs321495	0.83[ASN][1000 genomes]
rs368894	0.81[ASN][1000 genomes]
rs450855	0.88[ASN][1000 genomes]
rs4562122	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4710437	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4710440	1.00[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.85[YRI][hapmap];0.86[ASN][1000 genomes]
rs4710446	0.88[ASN][1000 genomes]
rs504776	0.88[ASN][1000 genomes]
rs62412950	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67875483	0.96[ASN][1000 genomes]
rs6904818	0.92[ASN][1000 genomes]
rs6911292	0.88[ASN][1000 genomes]
rs6921058	0.88[ASN][1000 genomes]
rs6921180	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6932538	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7767473	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9359643	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830674	chr6:64355412-64535801	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1022376	chr6:64386826-64445195	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64415400-64431200	Weak transcription	Esophagus	oesophagus
2	chr6:64422600-64441800	Weak transcription	HSMM	muscle
3	chr6:64423000-64428800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:64423200-64427800	Weak transcription	Psoas Muscle	Psoas
5	chr6:64423200-64428400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:64423200-64428400	Weak transcription	NHLF	lung
7	chr6:64423400-64427600	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:64423400-64427600	Weak transcription	Ovary	ovary
9	chr6:64423400-64428000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:64423400-64428400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:64423400-64431200	Weak transcription	Gastric	stomach
12	chr6:64423400-64433800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:64423400-64435000	Weak transcription	Fetal Intestine Small	intestine
14	chr6:64423400-64441200	Weak transcription	HUVEC	blood vessel
15	chr6:64423400-64441800	Weak transcription	Pancreas	Pancrea
16	chr6:64423600-64427400	Weak transcription	Dnd41	blood
17	chr6:64423600-64427800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr6:64423600-64428000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:64423600-64428000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:64423600-64428000	Weak transcription	HSMMtube	muscle
21	chr6:64423600-64428200	Weak transcription	Brain Angular Gyrus	brain
22	chr6:64423600-64428200	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:64423600-64428200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:64423600-64428400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:64423600-64428400	Weak transcription	Left Ventricle	heart
26	chr6:64423600-64428600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:64423600-64429000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:64423600-64430800	Weak transcription	Hela-S3	cervix
29	chr6:64423600-64431200	Weak transcription	Stomach Mucosa	stomach
30	chr6:64423600-64432400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr6:64423600-64433800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:64423600-64434400	Weak transcription	A549	lung
33	chr6:64423600-64441600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:64423600-64441800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:64423600-64441800	Weak transcription	NHDF-Ad	bronchial
36	chr6:64423600-64444400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:64423800-64427200	Weak transcription	Brain Germinal Matrix	brain
38	chr6:64423800-64427600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr6:64423800-64427600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:64423800-64427600	Weak transcription	Brain Anterior Caudate	brain
41	chr6:64423800-64428000	Weak transcription	Adipose Nuclei	Adipose
42	chr6:64423800-64428400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:64423800-64429000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr6:64423800-64433800	Weak transcription	Liver	Liver
45	chr6:64423800-64434000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:64423800-64435000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr6:64424200-64427600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr6:64424200-64428400	Weak transcription	HepG2	liver
49	chr6:64424200-64428600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr6:64424200-64428800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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