Variant report

Variant	rs7924208
Chromosome Location	chr10:91278222-91278223
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91174356..91176004-chr10:91276224..91278502,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152778	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs160054	0.92[CEU][hapmap];0.82[JPT][hapmap]
rs303175	0.84[CEU][hapmap]
rs303177	0.91[CEU][hapmap]
rs303178	0.88[CEU][hapmap]
rs303181	0.88[CEU][hapmap]
rs303183	0.81[CEU][hapmap]
rs303184	0.88[CEU][hapmap]
rs303188	0.92[CEU][hapmap]
rs303192	0.92[CEU][hapmap]
rs303194	0.81[EUR][1000 genomes]
rs303195	0.84[CEU][hapmap]
rs303196	0.84[CEU][hapmap]
rs303197	0.84[CEU][hapmap]
rs303199	0.84[CEU][hapmap]
rs303202	0.84[CEU][hapmap]
rs303204	0.84[CEU][hapmap]
rs304416	0.83[CEU][hapmap]
rs304429	0.84[CEU][hapmap]
rs304430	0.84[CEU][hapmap]
rs304469	0.81[EUR][1000 genomes]
rs4933507	0.86[CEU][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7087139	0.85[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7903979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7924208	HHEX	cis	cerebellum	SCAN
rs7924208	HECTD2	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91275600-91279400	Enhancers	HSMM	muscle
2	chr10:91276000-91278800	Enhancers	Pancreas	Pancrea
3	chr10:91276000-91281200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:91276200-91281000	Weak transcription	Fetal Lung	lung
5	chr10:91276400-91280200	Weak transcription	Fetal Intestine Small	intestine
6	chr10:91276400-91285600	Weak transcription	Fetal Intestine Large	intestine
7	chr10:91276600-91278800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:91276600-91279000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:91276600-91279400	Weak transcription	Fetal Stomach	stomach
10	chr10:91276600-91282000	Weak transcription	Hela-S3	cervix
11	chr10:91276600-91282200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:91276600-91282200	Weak transcription	A549	lung
13	chr10:91276600-91282200	Weak transcription	NHEK	skin
14	chr10:91276600-91282600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr10:91276600-91283000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:91276600-91284400	Enhancers	Fetal Heart	heart
17	chr10:91276800-91278600	Enhancers	Left Ventricle	heart
18	chr10:91276800-91280200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr10:91277400-91280000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr10:91277400-91280200	Enhancers	Osteobl	bone
21	chr10:91277400-91281800	Weak transcription	Fetal Muscle Leg	muscle
22	chr10:91277600-91279200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:91277600-91279400	Enhancers	HSMMtube	muscle
24	chr10:91277600-91279600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr10:91277800-91278400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:91277800-91278400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr10:91277800-91278400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:91277800-91278600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr10:91277800-91279400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:91277800-91279400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:91277800-91279600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:91277800-91279600	Enhancers	NHLF	lung
33	chr10:91277800-91282400	Enhancers	NHDF-Ad	bronchial
34	chr10:91278000-91278400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr10:91278000-91279600	Enhancers	NH-A	brain
36	chr10:91278200-91278800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:91278200-91280600	Weak transcription	Right Ventricle	heart
38	chr10:91278200-91280800	Weak transcription	Right Atrium	heart
39	chr10:91278200-91283000	Weak transcription	Aorta	Aorta
40	chr10:91278200-91285800	Weak transcription	Gastric	stomach
41	chr10:91278200-91286000	Weak transcription	Colon Smooth Muscle	Colon
42	chr10:91278200-91286400	Weak transcription	Lung	lung

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