Variant report

Variant	rs7034211
Chromosome Location	chr9:14137320-14137321
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	chr9:14135764..14138291-chr9:14312357..14314821,2	MCF-7	breast:
2	chr9:14137259..14139020-chr9:14141233..14143337,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10756530	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10810093	0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10810095	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35870361	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs497789	0.81[CEU][hapmap];0.82[CHB][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs508940	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs510777	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs516075	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs516090	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs574460	0.82[CHB][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs580501	0.90[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs580845	0.83[CHB][hapmap];0.86[GIH][hapmap]
rs7019649	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7862890	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	esv1802101	chr9:14125907-14137320	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv892595	chr9:14129951-14168029	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7034211	CCDC92	trans	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14108800-14143800	Weak transcription	Fetal Intestine Small	intestine
2	chr9:14116400-14137800	Weak transcription	Small Intestine	intestine
3	chr9:14116600-14159200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:14116600-14179200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:14116800-14156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:14117000-14171200	Weak transcription	Hela-S3	cervix
7	chr9:14120200-14159000	Weak transcription	NHLF	lung
8	chr9:14120600-14151600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr9:14120600-14154800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr9:14120600-14159000	Weak transcription	NH-A	brain
11	chr9:14121600-14143600	Weak transcription	Brain Substantia Nigra	brain
12	chr9:14123800-14198600	Weak transcription	Gastric	stomach
13	chr9:14126400-14148200	Weak transcription	Placenta	Placenta
14	chr9:14126600-14142000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:14126800-14144800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr9:14127000-14139200	Weak transcription	HSMM	muscle
17	chr9:14127000-14140600	Weak transcription	Lung	lung
18	chr9:14127000-14146000	Weak transcription	Osteobl	bone
19	chr9:14127000-14151200	Weak transcription	Aorta	Aorta
20	chr9:14127000-14156400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr9:14128200-14139400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:14131800-14173200	Weak transcription	Pancreas	Pancrea
23	chr9:14132000-14144600	Weak transcription	Fetal Brain Female	brain
24	chr9:14133000-14137600	Strong transcription	HUVEC	blood vessel
25	chr9:14133000-14144800	Weak transcription	Left Ventricle	heart
26	chr9:14133400-14153200	Weak transcription	Psoas Muscle	Psoas
27	chr9:14133800-14140200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:14133800-14143800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr9:14133800-14146000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:14133800-14146200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:14134000-14148000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr9:14134000-14151000	Weak transcription	Adipose Nuclei	Adipose
33	chr9:14134000-14181000	Weak transcription	Ovary	ovary
34	chr9:14134200-14143400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr9:14134200-14144400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:14134200-14144600	Weak transcription	Fetal Heart	heart
37	chr9:14134200-14145600	Weak transcription	Liver	Liver
38	chr9:14134200-14156200	Weak transcription	Right Ventricle	heart
39	chr9:14134200-14159400	Weak transcription	Fetal Stomach	stomach
40	chr9:14134400-14139600	Weak transcription	Colon Smooth Muscle	Colon
41	chr9:14135000-14139600	Weak transcription	Fetal Muscle Leg	muscle
42	chr9:14135400-14137400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:14135400-14137600	Enhancers	HMEC	breast
44	chr9:14135400-14137600	Enhancers	NHEK	skin
45	chr9:14135400-14140600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr9:14135600-14137400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr9:14136000-14155000	Weak transcription	Brain Germinal Matrix	brain
48	chr9:14136600-14140600	Weak transcription	Fetal Lung	lung
49	chr9:14137000-14137400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr9:14137000-14137400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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