Variant report

Variant	rs17080152
Chromosome Location	chr6:149255811-149255812
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	chr6:149255240..149257017-chr6:149261483..149263895,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10080254	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs10499256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17080323	1.00[CEU][hapmap]
rs17666460	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17728703	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17728886	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs41288425	1.00[ASN][1000 genomes]
rs6917705	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6941568	1.00[CEU][hapmap]
rs9373582	1.00[CEU][hapmap];0.80[TSI][hapmap]
rs9377180	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9390643	0.82[TSI][hapmap]
rs9399677	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9498182	1.00[CHB][hapmap];1.00[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	nsv1032690	chr6:149206106-149398712	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17080152	RMND1	cis	parietal	SCAN
rs17080152	IGF1	trans	lymphoblastoid	seeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149240600-149256400	Weak transcription	Aorta	Aorta
2	chr6:149243600-149262600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:149246000-149262600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:149246800-149262400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:149247200-149258800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:149247200-149259000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:149247800-149268800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:149252800-149257600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:149253600-149256800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:149253800-149257600	Enhancers	HSMMtube	muscle
11	chr6:149253800-149262600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:149254000-149256800	Enhancers	NHEK	skin
13	chr6:149254200-149256000	Weak transcription	NH-A	brain
14	chr6:149254400-149256000	Enhancers	HMEC	breast
15	chr6:149254600-149256000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:149254600-149256200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:149254600-149257600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:149254600-149257600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:149254600-149257600	Enhancers	Fetal Muscle Leg	muscle
20	chr6:149254600-149257600	Enhancers	NHDF-Ad	bronchial
21	chr6:149254800-149257600	Enhancers	Fetal Brain Male	brain
22	chr6:149254800-149268800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:149255000-149256200	Enhancers	Fetal Brain Female	brain
24	chr6:149255200-149256400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:149255200-149257600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr6:149255400-149256000	Enhancers	Fetal Thymus	thymus
27	chr6:149255400-149256400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:149255400-149256400	Enhancers	Fetal Heart	heart
29	chr6:149255400-149257000	Enhancers	Stomach Smooth Muscle	stomach
30	chr6:149255400-149257000	Enhancers	Osteobl	bone
31	chr6:149255400-149257200	Enhancers	Fetal Lung	lung
32	chr6:149255400-149257400	Enhancers	HSMM	muscle
33	chr6:149255400-149257600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:149255400-149257600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:149255400-149257600	Enhancers	Fetal Stomach	stomach
36	chr6:149255600-149256000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:149255600-149256000	Enhancers	Fetal Muscle Trunk	muscle
38	chr6:149255600-149256200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:149255600-149257000	Enhancers	Adipose Nuclei	Adipose
40	chr6:149255600-149257000	Enhancers	Ovary	ovary
41	chr6:149255600-149257200	Enhancers	NHLF	lung
42	chr6:149255600-149257400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:149255600-149257600	Enhancers	Colon Smooth Muscle	Colon
44	chr6:149255600-149257800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:149255600-149268600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr6:149255800-149257200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr6:149255800-149262600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:149255800-149262800	Weak transcription	Left Ventricle	heart
49	chr6:149255800-149264800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:149255800-149268800	Weak transcription	Brain Substantia Nigra	brain

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