Variant report

Variant	rs10230310
Chromosome Location	chr7:120883889-120883890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120867657..120869346-chr7:120882060..120884535,2	K562	blood:
2	chr7:120879517..120881994-chr7:120882337..120885417,3	K562	blood:
3	chr7:120879517..120881082-chr7:120883141..120886021,2	K562	blood:
4	chr7:120870734..120873223-chr7:120882275..120885118,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10225539	1.00[CEU][hapmap]
rs10229198	1.00[CEU][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10230185	1.00[CEU][hapmap]
rs10232353	1.00[CEU][hapmap]
rs10244109	1.00[CEU][hapmap]
rs10252157	1.00[CEU][hapmap]
rs10259598	1.00[CEU][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10260002	1.00[CEU][hapmap]
rs10260631	1.00[CEU][hapmap]
rs10274324	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10279122	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13438127	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691032	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs35793694	0.98[EUR][1000 genomes]
rs57977421	0.86[EUR][1000 genomes]
rs6951173	1.00[CEU][hapmap]
rs6965592	1.00[CEU][hapmap]
rs7808138	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs798913	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs798915	1.00[CEU][hapmap]
rs798917	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs798918	1.00[CEU][hapmap];1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv428506	chr7:120719434-120891759	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv427802	chr7:120749159-120935856	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	nsv889122	chr7:120860912-120906744	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120863000-120884200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr7:120868600-120887600	Weak transcription	Right Ventricle	heart
3	chr7:120872600-120936600	Weak transcription	Psoas Muscle	Psoas
4	chr7:120873400-120888800	Weak transcription	Fetal Heart	heart
5	chr7:120874800-120884200	Weak transcription	Fetal Stomach	stomach
6	chr7:120876000-120884200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:120876000-120884200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:120876000-120884200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:120876000-120889000	Weak transcription	Fetal Lung	lung
10	chr7:120876200-120884200	Weak transcription	Pancreas	Pancrea
11	chr7:120876200-120884400	Weak transcription	NHDF-Ad	bronchial
12	chr7:120876400-120884200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:120876600-120884600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:120877000-120887600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:120877800-120884200	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:120878000-120888600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:120878400-120884200	Weak transcription	Aorta	Aorta
18	chr7:120878400-120886200	Weak transcription	Fetal Kidney	kidney
19	chr7:120878600-120884000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:120878600-120884200	Weak transcription	Colon Smooth Muscle	Colon
21	chr7:120878600-120884600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:120879200-120884200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:120879200-120884600	Weak transcription	Ovary	ovary
24	chr7:120879200-120884800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:120879200-120886200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:120879200-120887400	Weak transcription	NHLF	lung
27	chr7:120880200-120887400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:120880400-120884200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:120880800-120884200	Weak transcription	Left Ventricle	heart
30	chr7:120881600-120884200	Enhancers	Dnd41	blood
31	chr7:120882200-120884000	Weak transcription	HSMMtube	muscle
32	chr7:120882600-120885400	ZNF genes & repeats	K562	blood
33	chr7:120883000-120887800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:120883000-120888000	Strong transcription	Liver	Liver
35	chr7:120883400-120884600	Enhancers	Fetal Brain Female	brain
36	chr7:120883600-120885000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr7:120883600-120885200	Genic enhancers	HSMM	muscle
38	chr7:120883600-120887600	Strong transcription	Adipose Nuclei	Adipose
39	chr7:120883800-120887600	Weak transcription	Esophagus	oesophagus
40	chr7:120883800-120888000	Weak transcription	Spleen	Spleen
41	chr7:120883800-120888600	Enhancers	Fetal Thymus	thymus

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