Variant report

Variant	rs2270884
Chromosome Location	chr7:121783874-121783875
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	chr7:121777883..121779429-chr7:121782207..121783905,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10236532	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10242443	0.94[AFR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11770803	0.81[EUR][1000 genomes]
rs11771234	0.82[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.85[MKK][hapmap];0.90[TSI][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12672571	0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs1875409	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1916890	0.92[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap]
rs1918031	0.93[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap]
rs2134059	0.81[GIH][hapmap]
rs2268076	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2302338	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2840105	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2896312	0.80[EUR][1000 genomes]
rs4140745	0.81[GIH][hapmap]
rs61173729	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62472934	0.97[AFR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6968699	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7787099	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019004	chr7:121733372-121800380	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034553	chr7:121734934-121800380	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv523632	chr7:121754695-121802068	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016617	chr7:121770441-121820730	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2270884	TSPAN12	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121779600-121785400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr7:121779800-121784800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:121780000-121785000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:121781000-121785000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:121781200-121785200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr7:121781200-121785200	Active TSS	Right Ventricle	heart
7	chr7:121781600-121784600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:121781600-121785800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:121782200-121784800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:121782200-121785000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr7:121782200-121785000	Active TSS	NHLF	lung
12	chr7:121782400-121784800	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:121782400-121785000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
14	chr7:121782400-121785000	Active TSS	Ovary	ovary
15	chr7:121782600-121784600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:121782800-121784600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:121782800-121784800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:121782800-121785000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:121782800-121785000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:121782800-121785000	Active TSS	Brain Germinal Matrix	brain
21	chr7:121782800-121785000	Active TSS	Fetal Brain Female	brain
22	chr7:121783000-121784600	Active TSS	HSMM	muscle
23	chr7:121783000-121784800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:121783000-121784800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr7:121783000-121784800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:121783000-121784800	Active TSS	Colon Smooth Muscle	Colon
27	chr7:121783000-121784800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr7:121783000-121784800	Active TSS	Fetal Kidney	kidney
29	chr7:121783000-121784800	Active TSS	Left Ventricle	heart
30	chr7:121783000-121785000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:121783000-121785000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:121783000-121785000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:121783000-121785000	Active TSS	Aorta	Aorta
34	chr7:121783000-121785000	Active TSS	Psoas Muscle	Psoas
35	chr7:121783000-121785000	Active TSS	GM12878-XiMat	blood
36	chr7:121783000-121785200	Active TSS	Brain Anterior Caudate	brain
37	chr7:121783000-121785200	Active TSS	Right Atrium	heart
38	chr7:121783200-121784200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr7:121783200-121784400	Active TSS	HMEC	breast
40	chr7:121783200-121784600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:121783200-121784600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:121783200-121784600	Active TSS	Muscle Satellite Cultured Cells	--
43	chr7:121783200-121784600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr7:121783200-121784600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr7:121783200-121784600	Active TSS	NHEK	skin
46	chr7:121783200-121784800	Active TSS	H1 Cell Line	embryonic stem cell
47	chr7:121783200-121784800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:121783200-121784800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:121783200-121784800	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr7:121783200-121784800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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