Variant report

Variant	rs836532
Chromosome Location	chr7:6472354-6472355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1647224	0.95[CHB][hapmap]
rs702482	0.95[CHB][hapmap]
rs702486	0.87[LWK][hapmap];0.85[MKK][hapmap]
rs836474	0.91[CHB][hapmap]
rs836479	0.95[CHB][hapmap]
rs836488	0.95[CHB][hapmap]
rs836500	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs836508	0.81[MKK][hapmap]
rs836510	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs836511	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs836518	0.86[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs836519	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs836523	0.86[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs836525	0.93[TSI][hapmap]
rs836535	0.86[ASW][hapmap];0.96[TSI][hapmap]
rs836540	0.85[ASW][hapmap];0.86[CEU][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs836560	0.91[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap]
rs836562	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription 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 miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv606000	chr7:6446027-6477002	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs836532	CYTH3	cis	cerebellum	SCAN
rs836532	RAC1	Cis_1M	lymphoblastoid	RTeQTL
rs836532	AIMP2	cis	cerebellum	SCAN
rs836532	PMS2	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:6438600-6475600	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:6439600-6472400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:6439800-6477400	Strong transcription	Fetal Intestine Small	intestine
7	chr7:6443800-6475000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:6444000-6474600	Strong transcription	Lung	lung
9	chr7:6450400-6475000	Strong transcription	Fetal Stomach	stomach
10	chr7:6452800-6475000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:6453000-6486800	Weak transcription	Small Intestine	intestine
12	chr7:6453600-6483200	Weak transcription	Fetal Kidney	kidney
13	chr7:6456600-6475200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:6456800-6486800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:6457800-6474800	Strong transcription	Thymus	Thymus
16	chr7:6458800-6474800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:6458800-6474800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:6458800-6474800	Strong transcription	Fetal Intestine Large	intestine
19	chr7:6459000-6474400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr7:6459000-6474600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr7:6459000-6474800	Strong transcription	Primary T cells from cord blood	blood
22	chr7:6459600-6474800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:6459600-6478400	Weak transcription	Psoas Muscle	Psoas
24	chr7:6460800-6473600	Weak transcription	Fetal Brain Male	brain
25	chr7:6460800-6474600	Strong transcription	Fetal Muscle Leg	muscle
26	chr7:6461800-6478000	Weak transcription	HUVEC	blood vessel
27	chr7:6462200-6475400	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr7:6462600-6475000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:6462600-6476200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:6463000-6475200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:6463000-6476000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:6463200-6474800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:6463800-6474600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:6464000-6474800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:6464200-6474200	Strong transcription	Left Ventricle	heart
36	chr7:6464200-6474400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:6464200-6474600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr7:6464400-6473600	Weak transcription	GM12878-XiMat	blood
39	chr7:6464600-6472400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:6464600-6481600	Weak transcription	Stomach Mucosa	stomach
41	chr7:6464800-6475000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr7:6464800-6475000	Strong transcription	Fetal Thymus	thymus
43	chr7:6465000-6477200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:6465000-6486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:6465400-6474000	Strong transcription	Adipose Nuclei	Adipose
46	chr7:6465600-6478200	Weak transcription	Right Ventricle	heart
47	chr7:6465800-6475200	Weak transcription	Colon Smooth Muscle	Colon
48	chr7:6465800-6475200	Weak transcription	Fetal Heart	heart
49	chr7:6465800-6486400	Weak transcription	Colonic Mucosa	Colon
50	chr7:6466000-6473000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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