Variant report

Variant	rs12004755
Chromosome Location	chr9:14159091-14159092
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	chr9:14157830..14160337-chr9:14162200..14164831,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10511592	0.86[YRI][hapmap];0.87[AFR][1000 genomes]
rs13300925	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16931403	0.84[YRI][hapmap];0.86[AFR][1000 genomes]
rs16931436	0.85[CEU][hapmap]
rs2382437	0.83[CEU][hapmap]
rs2382438	0.83[CEU][hapmap]
rs2382439	0.83[CEU][hapmap]
rs7042127	0.90[CHB][hapmap]
rs7044402	0.86[CEU][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs723968	0.84[YRI][hapmap];0.87[AFR][1000 genomes]
rs73642096	0.83[AMR][1000 genomes]
rs7868947	0.81[CHB][hapmap];0.83[AMR][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	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
8	nsv892596	chr9:14145487-14208724	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14116600-14159200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:14116600-14179200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:14117000-14171200	Weak transcription	Hela-S3	cervix
4	chr9:14123800-14198600	Weak transcription	Gastric	stomach
5	chr9:14131800-14173200	Weak transcription	Pancreas	Pancrea
6	chr9:14134000-14181000	Weak transcription	Ovary	ovary
7	chr9:14134200-14159400	Weak transcription	Fetal Stomach	stomach
8	chr9:14145000-14159400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr9:14152600-14159200	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:14153600-14159600	Weak transcription	Fetal Brain Female	brain
11	chr9:14153600-14159600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:14153800-14159200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr9:14155200-14159200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:14155200-14159200	Weak transcription	HSMM	muscle
15	chr9:14156800-14159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:14156800-14159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:14156800-14159400	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:14156800-14159400	Weak transcription	Right Ventricle	heart
19	chr9:14156800-14175600	Weak transcription	Liver	Liver
20	chr9:14157000-14159400	Weak transcription	Right Atrium	heart
21	chr9:14157200-14159200	Weak transcription	Adipose Nuclei	Adipose
22	chr9:14157400-14159200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr9:14157400-14159200	Weak transcription	Brain Anterior Caudate	brain
24	chr9:14157400-14159400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr9:14157400-14164400	Weak transcription	Fetal Brain Male	brain
26	chr9:14157600-14173600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:14158200-14159600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr9:14158200-14159600	Genic enhancers	A549	lung
29	chr9:14158200-14160600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:14158200-14161000	Enhancers	HUVEC	blood vessel
31	chr9:14158400-14159800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr9:14158400-14160400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr9:14158600-14159800	Enhancers	HMEC	breast
34	chr9:14158600-14159800	Enhancers	NHDF-Ad	bronchial
35	chr9:14158800-14159800	Enhancers	Psoas Muscle	Psoas
36	chr9:14158800-14160000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr9:14158800-14160000	Enhancers	NHEK	skin
38	chr9:14158800-14160600	Enhancers	Brain Cingulate Gyrus	brain
39	chr9:14158800-14160600	Enhancers	Fetal Heart	heart
40	chr9:14159000-14159200	Genic enhancers	Fetal Lung	lung
41	chr9:14159000-14159400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:14159000-14159400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:14159000-14159400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr9:14159000-14159600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:14159000-14159600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr9:14159000-14159600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr9:14159000-14159600	Enhancers	NH-A	brain
48	chr9:14159000-14159800	Enhancers	Aorta	Aorta
49	chr9:14159000-14159800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr9:14159000-14159800	Enhancers	Left Ventricle	heart

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