Variant report

Variant	rs2307079
Chromosome Location	chr9:14120803-14120804
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14084490..14087404-chr9:14119723..14122409,2	K562	blood:
2	chr9:14119573..14121369-chr9:14313946..14316559,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10511590	0.81[CEU][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs10738353	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10810092	0.97[GIH][hapmap];0.86[JPT][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs10961384	0.90[GIH][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs10961385	0.87[EUR][1000 genomes]
rs13284590	0.87[TSI][hapmap];0.90[EUR][1000 genomes]
rs13298724	0.92[EUR][1000 genomes]
rs16931379	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs17210326	0.90[EUR][1000 genomes]
rs2382436	0.93[EUR][1000 genomes]
rs35381921	0.93[EUR][1000 genomes]
rs36097937	0.91[EUR][1000 genomes]
rs3780582	0.84[GIH][hapmap]
rs475732	0.93[EUR][1000 genomes]
rs483669	0.89[EUR][1000 genomes]
rs498010	0.92[GIH][hapmap];0.87[EUR][1000 genomes]
rs510970	0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs548824	0.81[TSI][hapmap]
rs551272	0.91[CEU][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs551362	0.97[EUR][1000 genomes]
rs552338	0.84[CEU][hapmap];0.93[EUR][1000 genomes]
rs571693	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs576216	0.90[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs693566	0.91[CEU][hapmap];0.97[EUR][1000 genomes]
rs7018755	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7021992	0.82[EUR][1000 genomes]
rs7024088	0.85[EUR][1000 genomes]
rs7032993	0.85[EUR][1000 genomes]
rs7034613	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7863254	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14097400-14135400	Weak transcription	HSMMtube	muscle
2	chr9:14101800-14128200	Weak transcription	Esophagus	oesophagus
3	chr9:14103200-14122800	Weak transcription	Brain Anterior Caudate	brain
4	chr9:14103400-14128400	Weak transcription	Brain Angular Gyrus	brain
5	chr9:14107000-14126400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:14108000-14127400	Weak transcription	Stomach Mucosa	stomach
7	chr9:14108400-14121000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:14108800-14143800	Weak transcription	Fetal Intestine Small	intestine
9	chr9:14110000-14128400	Weak transcription	Fetal Kidney	kidney
10	chr9:14110200-14127200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:14111200-14121600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr9:14111400-14124200	Weak transcription	Spleen	Spleen
13	chr9:14112000-14121200	Strong transcription	Adipose Nuclei	Adipose
14	chr9:14112600-14121400	Strong transcription	Fetal Muscle Leg	muscle
15	chr9:14114400-14125200	Weak transcription	Colonic Mucosa	Colon
16	chr9:14115400-14127000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:14116200-14127000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr9:14116400-14121200	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:14116400-14137800	Weak transcription	Small Intestine	intestine
20	chr9:14116600-14128000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:14116600-14133400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:14116600-14159200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr9:14116600-14179200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr9:14116800-14123600	Weak transcription	Lung	lung
25	chr9:14116800-14125200	Weak transcription	Left Ventricle	heart
26	chr9:14116800-14125600	Weak transcription	Ovary	ovary
27	chr9:14116800-14128600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr9:14116800-14156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:14117000-14171200	Weak transcription	Hela-S3	cervix
30	chr9:14117400-14130400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr9:14118400-14126200	Weak transcription	HSMM	muscle
32	chr9:14118400-14127600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr9:14119200-14122600	Weak transcription	A549	lung
34	chr9:14119400-14121000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:14119400-14121000	Strong transcription	Placenta	Placenta
36	chr9:14119400-14121000	Enhancers	HMEC	breast
37	chr9:14119600-14121000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:14119600-14121400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr9:14119600-14123200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:14119800-14121200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:14119800-14121200	Strong transcription	Fetal Brain Female	brain
42	chr9:14120000-14121200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr9:14120000-14121600	Strong transcription	Brain Substantia Nigra	brain
44	chr9:14120200-14159000	Weak transcription	NHLF	lung
45	chr9:14120400-14121600	Strong transcription	Fetal Stomach	stomach
46	chr9:14120400-14122200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr9:14120400-14124000	Weak transcription	Colon Smooth Muscle	Colon
48	chr9:14120400-14124600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:14120400-14130200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr9:14120600-14121000	Strong transcription	Fetal Heart	heart

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