Variant report

Variant	rs2016325
Chromosome Location	chr7:66323500-66323501
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	chr7:66318937..66321564-chr7:66322590..66324389,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11768727	0.81[ASN][1000 genomes]
rs13227951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3778917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4273746	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4718421	0.80[ASN][1000 genomes]
rs4996149	0.90[ASN][1000 genomes]
rs6971897	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	116 gene(s)	inside rSNPs	diseases
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv981514	chr7:66310139-66366240	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2016325	RP4-756H11.3	cis	Thyroid	GTEx
rs2016325	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs2016325	RP4-756H11.3	cis	Artery Tibial	GTEx
rs2016325	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs2016325	RP4-756H11.3	cis	lung	GTEx
rs2016325	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs2016325	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs2016325	RP4-756H11.3	cis	Stomach	GTEx
rs2016325	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs2016325	RP4-756H11.3	cis	Artery Aorta	GTEx
rs2016325	RP4-756H11.3	cis	Nerve Tibial	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66310400-66337000	Weak transcription	Small Intestine	intestine
2	chr7:66310600-66329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:66310800-66324800	Weak transcription	Brain Substantia Nigra	brain
4	chr7:66310800-66331600	Weak transcription	Ovary	ovary
5	chr7:66311000-66323600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:66311000-66323600	Weak transcription	Primary T cells from cord blood	blood
7	chr7:66311000-66324200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:66311000-66324400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:66311000-66324600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr7:66311000-66324600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:66311000-66324600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:66311000-66324600	Weak transcription	Left Ventricle	heart
13	chr7:66311000-66324600	Weak transcription	Psoas Muscle	Psoas
14	chr7:66311000-66324800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:66311000-66324800	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:66311000-66324800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:66311000-66325200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:66311000-66329000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:66311000-66332600	Weak transcription	Colonic Mucosa	Colon
20	chr7:66311000-66339200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:66311000-66345800	Weak transcription	HSMMtube	muscle
22	chr7:66311000-66349400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:66311000-66358400	Weak transcription	Brain Anterior Caudate	brain
24	chr7:66311000-66368000	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:66311000-66385200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:66311200-66323600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:66311200-66324000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:66311200-66324200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:66311200-66324200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:66311200-66324600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:66311200-66324600	Weak transcription	Esophagus	oesophagus
32	chr7:66311200-66324600	Weak transcription	Pancreas	Pancrea
33	chr7:66311200-66324800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:66311200-66324800	Weak transcription	Adipose Nuclei	Adipose
35	chr7:66311200-66324800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:66311200-66324800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:66311200-66324800	Weak transcription	Right Ventricle	heart
38	chr7:66311200-66324800	Weak transcription	Spleen	Spleen
39	chr7:66311200-66343000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:66311200-66385200	Weak transcription	Brain Angular Gyrus	brain
41	chr7:66311400-66324800	Weak transcription	Gastric	stomach
42	chr7:66311600-66324600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:66311600-66334000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:66311800-66324800	Weak transcription	Dnd41	blood
45	chr7:66313200-66324600	Weak transcription	Primary B cells from cord blood	blood
46	chr7:66313600-66324200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:66313600-66324800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:66313600-66332400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:66313800-66323600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:66313800-66324600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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