Variant report

Variant	rs7029180
Chromosome Location	chr9:14220407-14220408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14218690..14221524-chr9:14235018..14237230,2	MCF-7	breast:
2	chr9:14213715..14216528-chr9:14218687..14222056,3	K562	blood:
3	chr9:14215028..14217662-chr9:14219597..14221108,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10511593	0.89[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10961429	0.87[GIH][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs7041043	0.89[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7044542	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7044603	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[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	nsv892597	chr9:14163383-14233159	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14203800-14221800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr9:14204000-14221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:14208800-14221000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr9:14209800-14221000	Weak transcription	Fetal Stomach	stomach
5	chr9:14209800-14223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:14211800-14222200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:14212000-14220600	Weak transcription	Fetal Brain Male	brain
8	chr9:14212200-14221800	Weak transcription	Brain Anterior Caudate	brain
9	chr9:14214200-14222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:14214200-14222600	Enhancers	Osteobl	bone
11	chr9:14214400-14220800	Weak transcription	Lung	lung
12	chr9:14214400-14221000	Weak transcription	Gastric	stomach
13	chr9:14214400-14221200	Weak transcription	Fetal Brain Female	brain
14	chr9:14214400-14222200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:14215000-14221000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr9:14216200-14221600	Enhancers	HUVEC	blood vessel
17	chr9:14216400-14220600	Weak transcription	NHLF	lung
18	chr9:14216800-14220800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:14217000-14221000	Weak transcription	Liver	Liver
20	chr9:14217000-14221000	Enhancers	A549	lung
21	chr9:14217600-14221600	Enhancers	Fetal Heart	heart
22	chr9:14217600-14222400	Enhancers	Fetal Lung	lung
23	chr9:14217800-14222200	Enhancers	Adipose Nuclei	Adipose
24	chr9:14218000-14220600	Enhancers	Brain Angular Gyrus	brain
25	chr9:14218000-14222200	Enhancers	Fetal Muscle Leg	muscle
26	chr9:14218000-14222200	Enhancers	Rectal Smooth Muscle	rectum
27	chr9:14218000-14222600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr9:14218000-14222600	Enhancers	Colon Smooth Muscle	Colon
29	chr9:14218000-14222600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr9:14218400-14222400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:14218400-14222400	Enhancers	HSMMtube	muscle
32	chr9:14218600-14220800	Weak transcription	NHEK	skin
33	chr9:14218600-14221600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr9:14218600-14221600	Weak transcription	Stomach Mucosa	stomach
35	chr9:14218800-14221800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr9:14218800-14221800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr9:14218800-14221800	Weak transcription	Brain Hippocampus Middle	brain
38	chr9:14218800-14222400	Enhancers	Stomach Smooth Muscle	stomach
39	chr9:14219000-14220800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr9:14219000-14221000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:14219000-14221600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr9:14219000-14221800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr9:14219000-14222000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:14219000-14222000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr9:14219000-14222400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:14219200-14221600	Weak transcription	Small Intestine	intestine
47	chr9:14219400-14222000	Enhancers	Brain Germinal Matrix	brain
48	chr9:14219600-14221000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr9:14219600-14222400	Enhancers	HSMM	muscle
50	chr9:14219800-14221400	Enhancers	NH-A	brain

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