Variant report

Variant	rs12112671
Chromosome Location	chr7:112462635-112462636
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112457341..112459401-chr7:112460833..112463216,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10227777	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10228144	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10229725	1.00[CHB][hapmap]
rs10232962	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10241709	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10268162	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10277252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10500013	1.00[CHB][hapmap]
rs12112310	1.00[CHB][hapmap]
rs17159980	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17160084	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1868588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2060636	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28435304	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28584529	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28601694	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28624855	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2905281	1.00[EUR][1000 genomes]
rs2905282	1.00[EUR][1000 genomes]
rs6964755	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6965803	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341402	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73715667	1.00[EUR][1000 genomes]
rs73715677	1.00[EUR][1000 genomes]
rs73718117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73718119	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718130	1.00[EUR][1000 genomes]
rs73718137	1.00[EUR][1000 genomes]
rs7777041	1.00[CHB][hapmap]
rs7778342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798366	1.00[CHB][hapmap]
rs7800661	1.00[CHB][hapmap]
rs7806160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1031405	chr7:112431403-112476756	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv429801	chr7:112434049-112477049	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv2752145	chr7:112434049-112500049	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv1023222	chr7:112434413-112476756	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv1034863	chr7:112434413-112504160	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
9	nsv5905	chr7:112445425-112521797	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112442800-112472800	Weak transcription	Lung	lung
2	chr7:112451200-112469200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:112454800-112463200	Weak transcription	HUVEC	blood vessel
4	chr7:112455400-112467600	Weak transcription	Primary T cells from cord blood	blood
5	chr7:112456000-112465800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:112456200-112467800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:112456200-112468600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:112456400-112467800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:112456400-112470000	Weak transcription	Right Ventricle	heart
10	chr7:112456600-112468000	Weak transcription	HSMMtube	muscle
11	chr7:112456600-112470200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:112456800-112464800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:112456800-112465200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:112457000-112464400	Weak transcription	Fetal Stomach	stomach
15	chr7:112457200-112465200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:112457200-112468000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:112457200-112468400	Weak transcription	Fetal Brain Male	brain
18	chr7:112457200-112469600	Weak transcription	Ovary	ovary
19	chr7:112457200-112470000	Weak transcription	Fetal Thymus	thymus
20	chr7:112457400-112468600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:112457600-112464400	Strong transcription	Primary B cells from cord blood	blood
22	chr7:112457600-112468400	Weak transcription	GM12878-XiMat	blood
23	chr7:112457600-112469400	Weak transcription	Brain Germinal Matrix	brain
24	chr7:112457600-112474000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:112458000-112467800	Weak transcription	Aorta	Aorta
26	chr7:112458200-112463000	Weak transcription	Fetal Brain Female	brain
27	chr7:112458200-112467800	Weak transcription	Fetal Kidney	kidney
28	chr7:112458200-112468000	Weak transcription	Fetal Heart	heart
29	chr7:112458200-112468600	Weak transcription	NH-A	brain
30	chr7:112458200-112469600	Weak transcription	Placenta	Placenta
31	chr7:112458400-112470400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:112458800-112468000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:112458800-112469200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:112459400-112468200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:112459400-112468200	Weak transcription	HSMM	muscle
36	chr7:112459400-112469000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr7:112459400-112469400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:112459600-112464000	Weak transcription	HMEC	breast
39	chr7:112459800-112465000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:112459800-112468200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr7:112459800-112474000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:112460200-112468200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr7:112460400-112467000	Weak transcription	Fetal Muscle Leg	muscle
44	chr7:112460400-112468400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr7:112460400-112468400	Weak transcription	Brain Substantia Nigra	brain
46	chr7:112460400-112469400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:112460400-112469400	Weak transcription	NHDF-Ad	bronchial
48	chr7:112460600-112463800	Strong transcription	Fetal Lung	lung
49	chr7:112460600-112468400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:112460600-112471400	Weak transcription	Esophagus	oesophagus

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