Variant report

Variant	rs11737
Chromosome Location	chr15:77344793-77344794
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:77339171..77340709-chr15:77344530..77346329,2	K562	blood:
2	chr15:77343568..77346165-chr15:77350645..77352262,2	K562	blood:
3	chr15:77319827..77321678-chr15:77343496..77345800,2	MCF-7	breast:
4	chr15:77343568..77346030-chr15:77349669..77352262,2	K562	blood:

Variant related genes	Relation type
ENSG00000140368	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11072641	0.88[AMR][1000 genomes]
rs11630497	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11636613	0.94[ASW][hapmap];1.00[CEU][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];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11636648	1.00[CEU][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12148761	0.96[CEU][hapmap]
rs12372961	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12901188	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12912792	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16968665	0.91[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2404233	0.87[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap]
rs2404234	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34443712	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3935339	0.87[JPT][hapmap]
rs4078354	0.87[CEU][hapmap];0.81[MEX][hapmap];0.82[MKK][hapmap]
rs4886509	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4886847	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55645420	0.81[ASN][1000 genomes]
rs7166154	0.96[CEU][hapmap]
rs7169831	1.00[CEU][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7177533	0.81[CHB][hapmap]
rs8032	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs938501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9806416	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv2758388	chr15:77170550-77373448	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2760041	chr15:77170550-77373448	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv833058	chr15:77235895-77393640	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv517068	chr15:77254544-77381222	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv904414	chr15:77304310-77400388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11737	ISL2	cis	cerebellum	SCAN
rs11737	TSPAN3	cis	cerebellum	SCAN
rs11737	PSTPIP1	cis	lymphoblastoid	seeQTL
rs11737	RP11-797A18.4	cis	Muscle Skeletal	GTEx
rs11737	RP11-797A18.4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77318400-77350600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr15:77321200-77362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:77323400-77346000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:77326800-77349800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:77327400-77346000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:77327800-77346800	Strong transcription	Primary B cells from cord blood	blood
7	chr15:77330000-77352000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr15:77330000-77352200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:77330200-77352400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr15:77330600-77350200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr15:77331200-77345600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:77333200-77351200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:77333800-77349600	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr15:77333800-77351000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:77334000-77348600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:77334200-77346000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:77334200-77349600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:77334800-77345400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:77334800-77346600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:77335400-77347400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:77335600-77346600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr15:77337600-77346200	Weak transcription	Fetal Heart	heart
23	chr15:77337800-77348400	Weak transcription	Psoas Muscle	Psoas
24	chr15:77337800-77352200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr15:77338000-77345400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr15:77338000-77348400	Weak transcription	Ovary	ovary
27	chr15:77338200-77346600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr15:77338200-77352600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:77338600-77345400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:77339000-77362000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:77339200-77345200	Weak transcription	Stomach Mucosa	stomach
32	chr15:77339200-77347000	Weak transcription	Brain Angular Gyrus	brain
33	chr15:77339200-77350000	Weak transcription	Esophagus	oesophagus
34	chr15:77339200-77352000	Weak transcription	Fetal Brain Male	brain
35	chr15:77339200-77352200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr15:77339200-77358000	Weak transcription	Colonic Mucosa	Colon
37	chr15:77339400-77346000	Weak transcription	NHEK	skin
38	chr15:77339400-77347600	Weak transcription	Gastric	stomach
39	chr15:77339400-77348800	Weak transcription	Aorta	Aorta
40	chr15:77339400-77359200	Weak transcription	Right Ventricle	heart
41	chr15:77339600-77349200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:77339600-77352400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:77339800-77350600	Weak transcription	Brain Substantia Nigra	brain
44	chr15:77339800-77352200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr15:77340400-77351800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr15:77341200-77349200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr15:77341200-77349400	Strong transcription	Fetal Muscle Leg	muscle
48	chr15:77341400-77345200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:77341400-77345400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr15:77341400-77347800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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