Variant report

Variant	rs11075902
Chromosome Location	chr16:71809088-71809089
allele	C/T
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	PAX5	chr16:71809036-71809245	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:71809049-71809093	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71802433..71805430-chr16:71808477..71810923,2	K562	blood:

Variant related genes	Relation type
AP1G1	TF binding region
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10083757	0.95[ASN][1000 genomes]
rs10220961	0.86[ASN][1000 genomes]
rs1035545	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10459804	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10459805	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10500559	0.85[EUR][1000 genomes]
rs1058747	0.84[EUR][1000 genomes]
rs11075900	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11539980	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11640725	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11641873	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11645467	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11646635	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11646748	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11648674	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11859729	0.81[ASN][1000 genomes]
rs11866795	0.92[ASN][1000 genomes]
rs12051443	0.83[EUR][1000 genomes]
rs12051449	0.83[EUR][1000 genomes]
rs12051506	0.85[EUR][1000 genomes]
rs12149092	0.87[ASN][1000 genomes]
rs12149496	0.88[ASN][1000 genomes]
rs12149873	0.85[ASN][1000 genomes]
rs12444484	0.82[EUR][1000 genomes]
rs12447856	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12448226	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12597065	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12597418	0.82[EUR][1000 genomes]
rs12598902	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12920243	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12922859	0.86[ASN][1000 genomes]
rs12924258	0.89[EUR][1000 genomes]
rs12925587	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12926987	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12927320	0.84[EUR][1000 genomes]
rs12928187	0.80[ASN][1000 genomes]
rs12930206	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12932850	0.84[EUR][1000 genomes]
rs12935426	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1392483	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1392487	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2010428	0.87[ASN][1000 genomes]
rs2036337	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2036338	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2270829	0.88[ASN][1000 genomes]
rs2270830	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2270831	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2270832	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2278031	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2303224	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2303225	0.84[EUR][1000 genomes]
rs2334879	0.85[EUR][1000 genomes]
rs28439683	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28582831	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28636800	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28704189	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34158217	0.86[ASN][1000 genomes]
rs34161748	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34401601	0.88[EUR][1000 genomes]
rs34734042	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34764568	0.85[EUR][1000 genomes]
rs35173463	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3751817	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3752681	0.84[EUR][1000 genomes]
rs3848389	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3925658	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4444347	0.80[ASN][1000 genomes]
rs4788442	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4788549	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788551	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4788552	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4788554	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4788558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4788821	0.85[EUR][1000 genomes]
rs4788826	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788827	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57997630	0.85[EUR][1000 genomes]
rs60881203	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62053107	0.84[EUR][1000 genomes]
rs62053108	0.85[EUR][1000 genomes]
rs6499532	0.80[ASN][1000 genomes]
rs6499539	0.90[ASN][1000 genomes]
rs7185997	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7186859	0.80[ASN][1000 genomes]
rs7192956	0.89[ASN][1000 genomes]
rs7196498	0.81[ASN][1000 genomes]
rs7201228	0.89[ASN][1000 genomes]
rs7201754	0.80[ASN][1000 genomes]
rs7202288	0.81[ASN][1000 genomes]
rs7203168	0.81[ASN][1000 genomes]
rs7203216	0.81[ASN][1000 genomes]
rs7203231	0.84[ASN][1000 genomes]
rs7404381	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7501228	0.84[ASN][1000 genomes]
rs8048057	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8048210	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8051760	0.94[ASN][1000 genomes]
rs8052489	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8052999	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8060867	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8061970	0.81[ASN][1000 genomes]
rs8062441	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8062477	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8063535	0.81[ASN][1000 genomes]
rs8203	0.84[EUR][1000 genomes]
rs918721	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs951453	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs951939	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921270	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9922054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9925069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9925228	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9927336	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9927437	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9931717	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9936903	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9937280	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9939455	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9940217	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9940707	0.87[ASN][1000 genomes]
rs9940990	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a
5	esv1815957	chr16:71790812-71816899	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71762200-71811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:71763200-71812600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr16:71763600-71812400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr16:71764000-71813000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr16:71770800-71810600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:71770800-71813800	Strong transcription	Liver	Liver
7	chr16:71771000-71812200	Strong transcription	Placenta	Placenta
8	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:71780000-71821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:71783800-71820600	Weak transcription	Psoas Muscle	Psoas
11	chr16:71784000-71811200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:71786600-71809800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr16:71792800-71809600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr16:71792800-71811000	Weak transcription	Small Intestine	intestine
15	chr16:71793200-71830400	Weak transcription	Fetal Heart	heart
16	chr16:71797000-71823600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:71797200-71811200	Weak transcription	Pancreas	Pancrea
18	chr16:71797400-71812800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:71798400-71822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr16:71799000-71810200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr16:71800400-71810600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr16:71801000-71815600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:71801200-71809400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr16:71801400-71814800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr16:71801600-71811200	Weak transcription	NHEK	skin
26	chr16:71801800-71811400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr16:71802000-71821400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr16:71802800-71810200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr16:71803000-71809800	Strong transcription	GM12878-XiMat	blood
30	chr16:71803000-71810400	Strong transcription	HSMM	muscle
31	chr16:71803000-71812200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr16:71803000-71812400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:71803000-71823800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr16:71804200-71809200	Strong transcription	Fetal Intestine Small	intestine
35	chr16:71805000-71823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr16:71805200-71811200	Weak transcription	Fetal Brain Female	brain
37	chr16:71805200-71811400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr16:71805200-71821200	Weak transcription	K562	blood
39	chr16:71805400-71811200	Weak transcription	Brain Germinal Matrix	brain
40	chr16:71805400-71817400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr16:71805600-71810000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr16:71805800-71811200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr16:71806200-71811800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr16:71806400-71809400	Strong transcription	Primary hematopoietic stem cells	blood
45	chr16:71806600-71810200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:71806800-71809200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:71806800-71809600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:71807000-71810400	Strong transcription	Osteobl	bone
49	chr16:71807000-71815600	Weak transcription	Stomach Mucosa	stomach
50	chr16:71807200-71815600	Weak transcription	Fetal Kidney	kidney

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