Variant report

Variant	rs7180781
Chromosome Location	chr15:78455355-78455356
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78440859..78443747-chr15:78450376..78455479,5	K562	blood:
2	chr15:78455141..78458694-chr15:78463989..78467554,5	MCF-7	breast:
3	chr15:78439170..78443635-chr15:78452310..78455814,4	K562	blood:

Variant related genes	Relation type
ENSG00000103740	Chromatin interaction
ENSG00000166411	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11072733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11072735	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12050483	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2304826	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28413000	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28470276	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28599778	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28699018	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8035724	0.86[CHB][hapmap]
rs9972590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv948437	chr15:78435527-78504662	Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7180781	CD247	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78442600-78458400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:78442800-78463400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:78442800-78465600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr15:78443400-78458000	Weak transcription	Stomach Mucosa	stomach
5	chr15:78445800-78464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:78446600-78465200	Strong transcription	Fetal Intestine Large	intestine
7	chr15:78446800-78466000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:78447000-78475200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:78447200-78459600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr15:78447400-78459200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr15:78447600-78459600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:78447600-78464400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr15:78447800-78459000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr15:78447800-78459600	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr15:78448000-78459800	Strong transcription	Duodenum Mucosa	Duodenum
16	chr15:78448000-78463000	Strong transcription	Fetal Muscle Leg	muscle
17	chr15:78448000-78464200	Strong transcription	Liver	Liver
18	chr15:78448000-78465200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr15:78448000-78465800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr15:78448400-78461000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr15:78448400-78461000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr15:78448600-78465400	Strong transcription	Placenta	Placenta
23	chr15:78448800-78463000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:78448800-78464200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:78448800-78466600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr15:78449000-78467800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:78449200-78458400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:78449200-78458800	Strong transcription	GM12878-XiMat	blood
29	chr15:78449400-78465200	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr15:78449800-78465400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:78450000-78458200	Strong transcription	Thymus	Thymus
32	chr15:78450000-78458400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:78450000-78458400	Strong transcription	Dnd41	blood
34	chr15:78450000-78464600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:78450000-78465200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:78450000-78465200	Strong transcription	Osteobl	bone
37	chr15:78450000-78466200	Strong transcription	Left Ventricle	heart
38	chr15:78450200-78455400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:78450200-78455400	Strong transcription	Pancreas	Pancrea
40	chr15:78450200-78455600	Strong transcription	Fetal Stomach	stomach
41	chr15:78450200-78455600	Strong transcription	Spleen	Spleen
42	chr15:78450200-78459800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:78450200-78462800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr15:78450200-78464200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:78450200-78465200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:78450200-78465400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:78450200-78465400	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr15:78450600-78465200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr15:78450800-78455600	Strong transcription	Fetal Intestine Small	intestine
50	chr15:78451000-78464400	Strong transcription	Adipose Nuclei	Adipose

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