Variant report

Variant	rs10485017
Chromosome Location	chr6:72121360-72121361
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	chr6:72120538..72122700-chr6:72126675..72130838,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B3GAT2-3	chr6:72118646-72122251	NONHSAT113497

Variant related genes	Relation type
ENSG00000269966	Chromatin interaction
ENSG00000233237	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10214508	0.92[EUR][1000 genomes]
rs13197578	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13202330	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13203324	0.85[EUR][1000 genomes]
rs1358379	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1405847	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1405849	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1527708	0.89[EUR][1000 genomes]
rs1527709	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1527710	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1527711	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1527713	0.92[EUR][1000 genomes]
rs16881149	1.00[CEU][hapmap]
rs16881181	1.00[CEU][hapmap]
rs16881235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16881296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1852579	0.92[EUR][1000 genomes]
rs1881033	0.89[EUR][1000 genomes]
rs2146370	1.00[CEU][hapmap]
rs35217364	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35663023	0.85[EUR][1000 genomes]
rs35995963	0.96[EUR][1000 genomes]
rs6918170	0.92[EUR][1000 genomes]
rs71555485	0.85[EUR][1000 genomes]
rs765466	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7765945	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9455448	1.00[CEU][hapmap]
rs9455449	1.00[CEU][hapmap]
rs9455454	0.92[EUR][1000 genomes]
rs980027	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][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	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72104000-72122000	Weak transcription	Fetal Stomach	stomach
2	chr6:72106000-72124800	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:72106400-72126800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:72106400-72128600	Weak transcription	Fetal Brain Male	brain
5	chr6:72106600-72122000	Weak transcription	Brain Substantia Nigra	brain
6	chr6:72106800-72122000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:72106800-72128600	Weak transcription	Fetal Brain Female	brain
8	chr6:72106800-72128800	Weak transcription	Brain Germinal Matrix	brain
9	chr6:72107800-72125000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:72114000-72124800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:72114200-72122200	Weak transcription	Right Atrium	heart
12	chr6:72114200-72125000	Weak transcription	Brain Angular Gyrus	brain
13	chr6:72114600-72121600	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:72114600-72121800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:72114800-72121800	Weak transcription	Ovary	ovary
16	chr6:72115200-72121800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:72115400-72121800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:72115400-72121800	Weak transcription	Fetal Heart	heart
19	chr6:72115400-72125200	Weak transcription	Fetal Intestine Large	intestine
20	chr6:72115600-72121400	Weak transcription	Liver	Liver
21	chr6:72115600-72123000	Genic enhancers	Muscle Satellite Cultured Cells	--
22	chr6:72116200-72128600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:72117200-72122400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:72117400-72121800	Weak transcription	Gastric	stomach
25	chr6:72117400-72121800	Weak transcription	Spleen	Spleen
26	chr6:72117400-72122200	Weak transcription	Esophagus	oesophagus
27	chr6:72117600-72121800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr6:72117600-72121800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:72117600-72121800	Genic enhancers	Hela-S3	cervix
30	chr6:72117600-72122200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:72117600-72122200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:72117600-72128000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:72118200-72122400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr6:72118200-72122800	Genic enhancers	HMEC	breast
35	chr6:72118200-72127800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:72118400-72123200	Genic enhancers	HUVEC	blood vessel
37	chr6:72118600-72121400	Genic enhancers	Osteobl	bone
38	chr6:72118600-72122600	Genic enhancers	NH-A	brain
39	chr6:72118600-72122600	Genic enhancers	NHDF-Ad	bronchial
40	chr6:72118600-72122800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:72118600-72122800	Enhancers	Brain Anterior Caudate	brain
42	chr6:72118800-72122400	Weak transcription	Brain Hippocampus Middle	brain
43	chr6:72119000-72121800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:72119000-72121800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:72119000-72125000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:72119400-72122200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr6:72119400-72122600	Enhancers	Psoas Muscle	Psoas
48	chr6:72119800-72121800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr6:72119800-72125200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:72120000-72121800	Weak transcription	Pancreas	Pancrea

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