Variant report

Variant	rs2305832
Chromosome Location	chr8:103266805-103266806
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr8:103266543-103266988	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:103266684-103266882	HepG2	liver:	n/a	n/a
3	FOXA1	chr8:103266594-103266837	HepG2	liver:	n/a	n/a
4	FOXA1	chr8:103266564-103267024	HepG2	liver:	n/a	n/a
5	FOXA2	chr8:103266556-103266805	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103266656..103268617-chr8:103269383..103271496,2	K562	blood:
2	chr8:103249647..103255113-chr8:103258766..103269094,16	K562	blood:
3	chr8:103262508..103264248-chr8:103264645..103267058,2	MCF-7	breast:
4	chr8:103264377..103266813-chr8:103423713..103425387,2	K562	blood:
5	chr8:103264839..103268068-chr8:103274584..103278724,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272037	TF binding region
ENSG00000253328	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000246263	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1037699	1.00[ASN][1000 genomes]
rs1037700	0.86[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1052071	1.00[GIH][hapmap]
rs11774038	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774772	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11777942	1.00[GIH][hapmap]
rs11778468	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11780954	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781662	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11782557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13259118	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13261195	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13266055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13267660	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13268552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13270916	1.00[AMR][1000 genomes]
rs13273642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13278113	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13280613	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869295	1.00[GIH][hapmap]
rs16869344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869352	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28421590	0.86[CEU][hapmap]
rs28973252	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28998469	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018543	0.86[CEU][hapmap]
rs34002127	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34609465	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34694718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34782477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34837214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34852161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35090306	1.00[AMR][1000 genomes]
rs35101027	1.00[AMR][1000 genomes]
rs35368426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35537579	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35624360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35769335	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35771800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3735720	1.00[GIH][hapmap]
rs3735721	1.00[GIH][hapmap]
rs3735722	1.00[GIH][hapmap]
rs3735723	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3907099	1.00[GIH][hapmap]
rs71518853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518855	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71518860	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs718165	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73698742	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7840355	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843178	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9773443	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
9	nsv891242	chr8:103210971-103282418	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv891243	chr8:103219629-103292724	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103252000-103268400	Weak transcription	Small Intestine	intestine
2	chr8:103252200-103268800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:103252200-103269400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:103252200-103273600	Weak transcription	Esophagus	oesophagus
5	chr8:103252200-103273600	Weak transcription	Spleen	Spleen
6	chr8:103252200-103273800	Weak transcription	Lung	lung
7	chr8:103252200-103292800	Weak transcription	Gastric	stomach
8	chr8:103252200-103318800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:103252400-103268800	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:103252400-103269200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:103252400-103271800	Weak transcription	Right Ventricle	heart
12	chr8:103252400-103272000	Weak transcription	Fetal Stomach	stomach
13	chr8:103252400-103273800	Weak transcription	Pancreas	Pancrea
14	chr8:103252400-103276000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:103252400-103280200	Weak transcription	Aorta	Aorta
16	chr8:103252400-103292400	Weak transcription	Psoas Muscle	Psoas
17	chr8:103252600-103267800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:103252600-103268400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:103252600-103268800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr8:103252600-103268800	Weak transcription	Thymus	Thymus
21	chr8:103252600-103276000	Weak transcription	Stomach Mucosa	stomach
22	chr8:103252600-103280000	Weak transcription	Fetal Brain Male	brain
23	chr8:103252800-103267400	Weak transcription	Fetal Kidney	kidney
24	chr8:103252800-103268000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:103252800-103273600	Weak transcription	Fetal Intestine Small	intestine
26	chr8:103253000-103268800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:103253200-103271800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:103253400-103268200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:103255200-103279800	Strong transcription	Primary B cells from cord blood	blood
30	chr8:103256000-103269000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:103256000-103299000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr8:103256000-103299000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:103256000-103299600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr8:103256200-103285000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr8:103256200-103299600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr8:103257200-103269800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr8:103257400-103299400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:103259400-103268600	Weak transcription	Brain Germinal Matrix	brain
39	chr8:103262400-103299400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:103262600-103281600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:103262600-103288200	Strong transcription	GM12878-XiMat	blood
42	chr8:103262600-103299600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:103262600-103329800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:103262800-103267600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:103262800-103267800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr8:103262800-103268200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr8:103262800-103285200	Strong transcription	NHDF-Ad	bronchial
48	chr8:103262800-103286800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:103262800-103296000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:103262800-103299600	Strong transcription	HSMM	muscle

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