Variant report

Variant	rs16832872
Chromosome Location	chr1:161335902-161335903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161335772-161336440	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161282416..161286426-chr1:161334773..161339073,4	K562	blood:
2	chr1:161282812..161285638-chr1:161335844..161339793,4	MCF-7	breast:
3	chr1:161334444..161337167-chr1:161357500..161360839,3	K562	blood:
4	chr1:161334293..161337194-chr1:161337743..161340584,3	K562	blood:
5	chr1:161328582..161330523-chr1:161333612..161336160,2	MCF-7	breast:
6	chr1:161281353..161283916-chr1:161334777..161336418,2	K562	blood:
7	chr1:161335008..161337203-chr1:161340220..161343158,2	K562	blood:
8	chr1:161335442..161337167-chr1:161358707..161360839,2	K562	blood:
9	chr1:161316853..161318485-chr1:161335665..161337660,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235477	TF binding region
ENSG00000143252	Chromatin interaction
ENSG00000235477	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10157158	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs10158388	0.80[ASN][1000 genomes]
rs10494350	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs10494351	0.91[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs10494352	0.91[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs10494353	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs10494354	0.80[ASN][1000 genomes]
rs10494355	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs1133805	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs1133806	0.80[ASN][1000 genomes]
rs11582439	0.83[CHB][hapmap]
rs12239492	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs12239719	0.80[ASN][1000 genomes]
rs12385733	0.80[ASN][1000 genomes]
rs12725465	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs12730813	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs12738660	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs12745476	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs13374037	0.89[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs16832790	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[GIH][hapmap]
rs16832809	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs16832811	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs16832813	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs16832817	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs16832820	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs16832823	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs16832824	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs16832826	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs16832835	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs16832842	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs16832846	0.80[ASN][1000 genomes]
rs16832850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16832851	0.91[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs16832854	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs16832866	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832869	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs16832871	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs16832874	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs16832883	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs16832884	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs16832887	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs16832892	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs16832894	0.80[ASN][1000 genomes]
rs16832897	0.80[ASN][1000 genomes]
rs16832900	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs16832902	0.80[ASN][1000 genomes]
rs16832908	0.80[ASN][1000 genomes]
rs16832922	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs16832948	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16832949	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs3087596	0.80[ASN][1000 genomes]
rs35006684	0.80[ASN][1000 genomes]
rs3934593	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs3935401	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs4077289	0.80[ASN][1000 genomes]
rs4077290	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs4077629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4077631	0.90[CHB][hapmap]
rs41270861	0.80[ASN][1000 genomes]
rs4255402	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs4255403	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs4291521	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs4319356	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs4463689	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs4469725	0.82[ASN][1000 genomes]
rs4474277	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs4477296	0.82[ASN][1000 genomes]
rs4481873	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs4523531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4525064	0.80[ASN][1000 genomes]
rs4534404	0.80[ASN][1000 genomes]
rs4534405	0.80[ASN][1000 genomes]
rs4585997	1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs4600063	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs4631719	0.82[ASN][1000 genomes]
rs4634926	0.80[ASN][1000 genomes]
rs4634927	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs55694670	1.00[ASN][1000 genomes]
rs55729989	0.80[ASN][1000 genomes]
rs55783815	0.80[ASN][1000 genomes]
rs55807618	0.80[ASN][1000 genomes]
rs55809622	0.80[ASN][1000 genomes]
rs55857747	0.88[ASN][1000 genomes]
rs55929617	0.80[ASN][1000 genomes]
rs56007456	0.80[ASN][1000 genomes]
rs56050874	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56290916	0.80[ASN][1000 genomes]
rs56406825	0.80[ASN][1000 genomes]
rs56868836	0.80[ASN][1000 genomes]
rs57007882	0.80[ASN][1000 genomes]
rs57270150	0.80[ASN][1000 genomes]
rs57306652	0.80[ASN][1000 genomes]
rs57421557	0.80[ASN][1000 genomes]
rs57473118	0.80[ASN][1000 genomes]
rs57835711	0.80[ASN][1000 genomes]
rs57841279	0.80[ASN][1000 genomes]
rs57858140	0.80[ASN][1000 genomes]
rs57884260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57931640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58138146	0.80[ASN][1000 genomes]
rs58604210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58842513	0.80[ASN][1000 genomes]
rs58874147	0.80[ASN][1000 genomes]
rs59191996	0.80[ASN][1000 genomes]
rs59340690	0.80[ASN][1000 genomes]
rs59544428	0.80[ASN][1000 genomes]
rs59559479	0.80[ASN][1000 genomes]
rs59747425	0.80[ASN][1000 genomes]
rs59774375	0.80[ASN][1000 genomes]
rs59840298	0.80[ASN][1000 genomes]
rs60179510	0.80[ASN][1000 genomes]
rs60382588	0.80[ASN][1000 genomes]
rs61000526	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61174143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61308286	0.80[ASN][1000 genomes]
rs61326870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61447446	0.80[ASN][1000 genomes]
rs61461118	0.80[ASN][1000 genomes]
rs61576374	0.80[ASN][1000 genomes]
rs61653684	0.80[ASN][1000 genomes]
rs7412460	0.91[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs74124945	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74127624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74127638	0.80[ASN][1000 genomes]
rs74127639	0.80[ASN][1000 genomes]
rs74127640	1.00[ASN][1000 genomes]
rs74127641	0.80[ASN][1000 genomes]
rs74127656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74127657	0.80[ASN][1000 genomes]
rs74127658	0.80[ASN][1000 genomes]
rs9330294	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs9970904	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv432998	chr1:161335902-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161286800-161337400	Weak transcription	Fetal Heart	heart
2	chr1:161287000-161337400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:161294200-161337400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:161294200-161338200	Weak transcription	Small Intestine	intestine
5	chr1:161304600-161342600	Weak transcription	Esophagus	oesophagus
6	chr1:161305000-161337800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:161305400-161337400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:161307400-161337600	Weak transcription	Psoas Muscle	Psoas
9	chr1:161310600-161337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:161312600-161341200	Weak transcription	HMEC	breast
11	chr1:161313000-161337600	Weak transcription	Spleen	Spleen
12	chr1:161313000-161338400	Weak transcription	Pancreas	Pancrea
13	chr1:161313000-161341000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:161313000-161341200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:161313200-161337600	Weak transcription	Right Ventricle	heart
16	chr1:161313400-161336000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:161315200-161336000	Weak transcription	GM12878-XiMat	blood
18	chr1:161317000-161337400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:161317200-161336000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:161317200-161338200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:161320600-161337000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:161321600-161337800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:161321800-161348800	Weak transcription	Gastric	stomach
24	chr1:161326200-161337200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr1:161327200-161339200	Weak transcription	NHLF	lung
26	chr1:161327400-161337800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:161327400-161337800	Weak transcription	Brain Germinal Matrix	brain
28	chr1:161327400-161352600	Weak transcription	Lung	lung
29	chr1:161327600-161338600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:161327800-161337400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:161328400-161359000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:161328600-161359000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:161328800-161336800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:161329200-161337400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:161329600-161337400	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:161329800-161337000	Weak transcription	Brain Anterior Caudate	brain
37	chr1:161329800-161337400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:161329800-161337400	Weak transcription	Fetal Kidney	kidney
39	chr1:161329800-161337800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:161330800-161336800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:161331000-161336800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:161331200-161336800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr1:161331200-161336800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr1:161331400-161336000	Strong transcription	HepG2	liver
45	chr1:161331600-161336400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:161331600-161336800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr1:161331800-161336400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:161331800-161336400	Strong transcription	Primary T cells from cord blood	blood
49	chr1:161331800-161336600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:161331800-161336600	Strong transcription	Liver	Liver

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