Variant report

Variant	rs12598902
Chromosome Location	chr16:71845186-71845187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr16:71845176-71845475	T-47D	breast:	n/a	n/a
2	FOXA1	chr16:71845120-71845451	T-47D	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71842987..71845726-chr22:39638824..39641256,2	MCF-7	breast:
2	chr16:71843676..71845898-chr16:71893774..71896264,2	MCF-7	breast:
3	chr16:71843914..71846330-chr16:71918467..71921242,2	MCF-7	breast:
4	chr16:71843627..71847221-chr16:71857601..71861562,3	K562	blood:
5	chr16:71840729..71843381-chr16:71843665..71845261,2	MCF-7	breast:
6	chr16:71843164..71845312-chr16:71848079..71849658,2	K562	blood:
7	chr16:71840441..71845295-chr16:71875076..71881716,14	K562	blood:
8	chr16:71843781..71846275-chr16:71846671..71848938,2	MCF-7	breast:

No data

Variant related genes	Relation type
AP1G1	TF binding region
ENSG00000182149	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000100311	Chromatin interaction
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10083757	0.82[ASN][1000 genomes]
rs1035545	0.95[CEU][hapmap];0.92[CHB][hapmap]
rs10459804	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10459805	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1058747	0.96[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs11075895	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11075900	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11075902	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11539980	0.96[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs11640725	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11641873	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11645467	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11646635	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11646748	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11648674	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs11859729	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11866795	0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12149092	0.81[ASN][1000 genomes]
rs12444484	0.96[CEU][hapmap];0.90[JPT][hapmap]
rs12447856	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12448226	0.81[EUR][1000 genomes]
rs12597065	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes]
rs12597418	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12600153	0.85[AFR][1000 genomes]
rs12600163	0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs12920243	0.95[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12924258	0.82[EUR][1000 genomes]
rs12925587	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12926987	0.81[EUR][1000 genomes]
rs12930206	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12932850	0.96[CEU][hapmap];0.89[JPT][hapmap]
rs12935426	0.83[EUR][1000 genomes]
rs13332180	0.83[YRI][hapmap]
rs1392483	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1392487	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs1582589	0.96[CEU][hapmap]
rs2036337	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2036338	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2270829	0.82[ASN][1000 genomes]
rs2270830	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2270831	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2270832	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278031	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs2291947	0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs2303225	0.95[CEU][hapmap];0.95[JPT][hapmap]
rs28439683	0.82[EUR][1000 genomes]
rs28636800	0.81[EUR][1000 genomes]
rs28704189	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34158217	0.92[ASN][1000 genomes]
rs34161748	0.82[EUR][1000 genomes]
rs34401601	0.81[EUR][1000 genomes]
rs34734042	0.86[EUR][1000 genomes]
rs35173463	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3751817	0.87[EUR][1000 genomes]
rs3752681	0.96[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs3848389	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4444347	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4538017	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs4788442	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788448	0.81[AFR][1000 genomes]
rs4788549	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs4788551	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs4788552	0.87[EUR][1000 genomes]
rs4788554	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4788558	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4788567	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs4788572	0.81[AFR][1000 genomes]
rs4788574	0.81[AFR][1000 genomes]
rs4788821	0.96[CEU][hapmap];0.88[JPT][hapmap]
rs4788826	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs4788827	0.96[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs60881203	0.82[EUR][1000 genomes]
rs6499539	0.80[ASN][1000 genomes]
rs7185997	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7192956	0.83[ASN][1000 genomes]
rs7201228	0.81[ASN][1000 genomes]
rs7201754	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7202288	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7203231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7404381	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7501228	0.90[ASN][1000 genomes]
rs8048057	0.96[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs8048210	0.96[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs8051760	0.84[ASN][1000 genomes]
rs8052489	0.81[EUR][1000 genomes]
rs8052999	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8060867	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8061970	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8062441	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8062477	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8203	0.96[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs918721	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs951453	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs951939	0.96[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs952160	0.83[YRI][hapmap]
rs979789	0.94[JPT][hapmap]
rs9921270	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs9922054	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9925069	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9925228	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs9927336	0.81[EUR][1000 genomes]
rs9927437	0.81[EUR][1000 genomes]
rs9931717	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9936903	0.82[EUR][1000 genomes]
rs9937280	0.82[EUR][1000 genomes]
rs9937626	0.82[AFR][1000 genomes]
rs9939455	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9940217	0.96[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs9940707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9940990	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71843600-71852600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:71843800-71845200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr16:71843800-71845400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr16:71843800-71845400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr16:71843800-71845600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr16:71843800-71845600	Enhancers	K562	blood
7	chr16:71843800-71846000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr16:71843800-71846600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr16:71843800-71850000	Weak transcription	Osteobl	bone
10	chr16:71843800-71850400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:71843800-71850400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:71843800-71850400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr16:71843800-71850400	Weak transcription	Fetal Stomach	stomach
14	chr16:71843800-71850600	Weak transcription	Brain Hippocampus Middle	brain
15	chr16:71843800-71850600	Weak transcription	A549	lung
16	chr16:71843800-71850800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr16:71843800-71850800	Weak transcription	HSMM	muscle
18	chr16:71843800-71851600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr16:71843800-71851600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr16:71843800-71855400	Weak transcription	Primary T cells from cord blood	blood
21	chr16:71843800-71861600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:71844000-71845200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr16:71844000-71845400	Enhancers	GM12878-XiMat	blood
24	chr16:71844000-71850400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr16:71844000-71859400	Weak transcription	Fetal Intestine Small	intestine
26	chr16:71844200-71845200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr16:71844200-71849600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:71844200-71850400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr16:71844200-71850400	Weak transcription	Hela-S3	cervix
30	chr16:71844200-71850600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:71844200-71850600	Weak transcription	Brain Angular Gyrus	brain
32	chr16:71844200-71862200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr16:71844400-71850000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr16:71844600-71846200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr16:71844800-71845200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:71844800-71845600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr16:71844800-71845600	Enhancers	HepG2	liver
38	chr16:71844800-71862000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr16:71845000-71845200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr16:71845000-71845400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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