Variant report

Variant	rs7500286
Chromosome Location	chr16:81966195-81966196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:81964714-81966605	GM12892	blood:	n/a	n/a
2	POLR2A	chr16:81966069-81966605	GM12892	blood:	n/a	n/a
3	POLR2A	chr16:81966114-81966646	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:81966120-81966750	GM12891	blood:	n/a	n/a
5	POLR2A	chr16:81965159-81966598	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81924097..81924636-chr16:81965965..81966937,2	MCF-7	breast:
2	chr16:81959537..81963642-chr16:81965973..81970581,4	K562	blood:
3	chr16:81923808..81924601-chr16:81966050..81966774,2	MCF-7	breast:

Variant related genes	Relation type
PLCG2	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12446596	0.82[CHD][hapmap]
rs12716926	0.81[CHB][hapmap]
rs17202296	0.82[CHD][hapmap]
rs35770398	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3813010	0.82[CHD][hapmap]
rs4306504	0.82[JPT][hapmap]
rs4313806	0.82[JPT][hapmap]
rs4337289	0.91[CHB][hapmap];0.85[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4366702	0.82[CHD][hapmap]
rs4889441	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs7193086	0.82[JPT][hapmap]
rs7499440	0.93[JPT][hapmap]
rs8063604	0.86[CHD][hapmap]
rs9938623	0.82[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81920400-81982000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr16:81924400-81970000	Weak transcription	Fetal Intestine Large	intestine
3	chr16:81925800-81992600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr16:81933000-81983600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:81934800-81971600	Weak transcription	Right Atrium	heart
6	chr16:81936000-81982000	Weak transcription	Gastric	stomach
7	chr16:81936000-81984600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr16:81937000-81969800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr16:81945000-81984600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr16:81946200-81985200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr16:81947000-81969200	Weak transcription	Pancreas	Pancrea
12	chr16:81950600-81982000	Strong transcription	GM12878-XiMat	blood
13	chr16:81951400-81971400	Weak transcription	Left Ventricle	heart
14	chr16:81952000-81982800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr16:81952400-81983000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:81952600-81970600	Strong transcription	Spleen	Spleen
17	chr16:81952600-81981800	Strong transcription	Primary B cells from cord blood	blood
18	chr16:81952800-81973000	Strong transcription	Duodenum Mucosa	Duodenum
19	chr16:81952800-81984600	Strong transcription	Liver	Liver
20	chr16:81953000-81977400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:81954800-81991800	Weak transcription	Fetal Thymus	thymus
22	chr16:81955400-81970200	Weak transcription	Brain Substantia Nigra	brain
23	chr16:81956400-81971400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr16:81956400-81971600	Weak transcription	Fetal Kidney	kidney
25	chr16:81957000-81971200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:81959600-81983800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr16:81960000-81969800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:81960200-81966600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr16:81960600-81982400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr16:81961600-81984600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr16:81962000-81966600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr16:81962600-81995800	Weak transcription	Small Intestine	intestine
33	chr16:81962800-81971200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr16:81962800-81972600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr16:81962800-81983600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr16:81963000-81966200	Weak transcription	Fetal Stomach	stomach
37	chr16:81963000-81971400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr16:81963000-81982000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr16:81963000-81984600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr16:81963600-81970600	Weak transcription	Esophagus	oesophagus
41	chr16:81963600-81979600	Weak transcription	Colonic Mucosa	Colon
42	chr16:81963600-81983200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr16:81963800-81969600	Weak transcription	Adipose Nuclei	Adipose
44	chr16:81963800-81969800	Weak transcription	Thymus	Thymus
45	chr16:81964600-81968000	Strong transcription	Lung	lung
46	chr16:81965000-81968200	Strong transcription	Fetal Intestine Small	intestine
47	chr16:81965600-81969800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr16:81966000-81967400	Strong transcription	Placenta	Placenta
49	chr16:81966000-81967600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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