Variant report

Variant	rs35316247
Chromosome Location	chr8:103268149-103268150
allele	C/T
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:6)
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	chr8:103267288-103268178	K562	blood:	n/a	n/a

No data

(count:6 , 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	chr8:103250631..103253167-chr8:103267124..103270074,2	K562	blood:
4	chr8:103267107..103271106-chr8:103271292..103276366,4	MCF-7	breast:
5	chr8:103267417..103268998-chr8:103817417..103819784,2	MCF-7	breast:
6	chr8:103267398..103271386-chr8:103272103..103274903,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272037	TF binding region
ENSG00000048392	Chromatin interaction
ENSG00000253328	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10505020	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12707772	0.82[EUR][1000 genomes]
rs13248603	0.87[EUR][1000 genomes]
rs13249865	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13250998	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259151	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13261528	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262662	0.90[EUR][1000 genomes]
rs13263132	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13269311	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13270908	0.93[EUR][1000 genomes]
rs13278798	0.93[EUR][1000 genomes]
rs13278875	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465164	1.00[ASN][1000 genomes]
rs1465165	1.00[ASN][1000 genomes]
rs1465166	1.00[ASN][1000 genomes]
rs16869130	1.00[ASN][1000 genomes]
rs16869132	1.00[ASN][1000 genomes]
rs17414892	1.00[ASN][1000 genomes]
rs17415702	1.00[ASN][1000 genomes]
rs17415729	1.00[ASN][1000 genomes]
rs17415778	1.00[ASN][1000 genomes]
rs17416694	1.00[ASN][1000 genomes]
rs17498430	1.00[ASN][1000 genomes]
rs17498920	1.00[ASN][1000 genomes]
rs17499768	1.00[ASN][1000 genomes]
rs17500046	1.00[ASN][1000 genomes]
rs17500151	1.00[ASN][1000 genomes]
rs17500306	1.00[ASN][1000 genomes]
rs17500367	1.00[ASN][1000 genomes]
rs17506740	1.00[ASN][1000 genomes]
rs17506775	1.00[ASN][1000 genomes]
rs17507464	1.00[ASN][1000 genomes]
rs17507512	1.00[ASN][1000 genomes]
rs2061299	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28927991	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28999669	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34270914	0.87[EUR][1000 genomes]
rs34278087	0.87[EUR][1000 genomes]
rs34279135	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34297513	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34351006	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34356268	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34730203	0.93[EUR][1000 genomes]
rs34976508	0.87[EUR][1000 genomes]
rs35166521	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35558370	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35818724	0.83[EUR][1000 genomes]
rs35873559	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35969173	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35980679	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36178006	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3899035	1.00[ASN][1000 genomes]
rs4483125	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003023	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59572423	0.95[EUR][1000 genomes]
rs71518852	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71518861	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518862	0.86[EUR][1000 genomes]
rs72681127	1.00[ASN][1000 genomes]
rs72681128	1.00[ASN][1000 genomes]
rs72681129	1.00[ASN][1000 genomes]
rs72681131	1.00[ASN][1000 genomes]
rs72681134	1.00[ASN][1000 genomes]
rs72681136	1.00[ASN][1000 genomes]
rs72681138	1.00[ASN][1000 genomes]
rs7845877	0.83[EUR][1000 genomes]
rs9650000	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9650001	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9650002	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]

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	chr8:103252600-103268400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:103252600-103268800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:103252600-103268800	Weak transcription	Thymus	Thymus
20	chr8:103252600-103276000	Weak transcription	Stomach Mucosa	stomach
21	chr8:103252600-103280000	Weak transcription	Fetal Brain Male	brain
22	chr8:103252800-103273600	Weak transcription	Fetal Intestine Small	intestine
23	chr8:103253000-103268800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:103253200-103271800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:103253400-103268200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:103255200-103279800	Strong transcription	Primary B cells from cord blood	blood
27	chr8:103256000-103269000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:103256000-103299000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr8:103256000-103299000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:103256000-103299600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr8:103256200-103285000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:103256200-103299600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr8:103257200-103269800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr8:103257400-103299400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:103259400-103268600	Weak transcription	Brain Germinal Matrix	brain
36	chr8:103262400-103299400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:103262600-103281600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:103262600-103288200	Strong transcription	GM12878-XiMat	blood
39	chr8:103262600-103299600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:103262600-103329800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:103262800-103268200	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr8:103262800-103285200	Strong transcription	NHDF-Ad	bronchial
43	chr8:103262800-103286800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:103262800-103296000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:103262800-103299600	Strong transcription	HSMM	muscle
46	chr8:103263000-103294000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:103263000-103299000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr8:103263000-103299000	Strong transcription	Liver	Liver
49	chr8:103263000-103299000	Strong transcription	Fetal Thymus	thymus
50	chr8:103263200-103284000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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