Variant report

Variant	rs13248603
Chromosome Location	chr8:103398212-103398213
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103397855..103399789-chr8:103423397..103424971,2	MCF-7	breast:
2	chr8:103396157..103398817-chr8:103419395..103421018,2	MCF-7	breast:
3	chr8:103396572..103398863-chr8:103422256..103424667,2	K562	blood:
4	chr8:103379043..103381302-chr8:103397791..103399333,2	MCF-7	breast:
5	chr8:103393395..103395739-chr8:103396622..103399567,3	K562	blood:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction

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

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

rs_ID	r²[population]
rs10505020	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10955286	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955287	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11369820	1.00[ASN][1000 genomes]
rs12707772	0.93[CEU][hapmap]
rs13249355	1.00[ASN][1000 genomes]
rs13249865	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs13250998	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13259151	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13261528	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13262662	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13262857	1.00[ASN][1000 genomes]
rs13263132	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13268883	1.00[ASN][1000 genomes]
rs13269273	0.80[CEU][hapmap]
rs13269311	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13270908	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13271493	1.00[ASN][1000 genomes]
rs13278798	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278875	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2061299	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs28927991	0.85[EUR][1000 genomes]
rs28999669	0.84[EUR][1000 genomes]
rs34078231	1.00[ASN][1000 genomes]
rs34270914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34278087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34279135	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34297513	0.86[EUR][1000 genomes]
rs34351006	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34356268	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34676997	1.00[ASN][1000 genomes]
rs34730203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34913297	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34976508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35166521	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35316247	0.87[EUR][1000 genomes]
rs35558370	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35655607	1.00[ASN][1000 genomes]
rs35873559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35969173	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35980679	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36178006	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4483125	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55804830	1.00[ASN][1000 genomes]
rs56003023	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59572423	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71506353	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518852	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71518861	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71518862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518868	1.00[ASN][1000 genomes]
rs7845877	0.82[EUR][1000 genomes]
rs9650000	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9650001	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9650002	1.00[CEU][hapmap];0.92[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	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
2	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
3	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
4	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
5	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
6	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
9	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	esv2761454	chr8:103394602-103414235	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
2	chr8:103372400-103412600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:103372800-103403800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:103372800-103410200	Weak transcription	Fetal Kidney	kidney
5	chr8:103373000-103402400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:103373200-103401400	Weak transcription	Hela-S3	cervix
7	chr8:103381000-103398400	Weak transcription	Fetal Intestine Small	intestine
8	chr8:103384200-103411600	Weak transcription	Lung	lung
9	chr8:103384200-103416800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:103387000-103402800	Weak transcription	Dnd41	blood
11	chr8:103388200-103407200	Weak transcription	Right Ventricle	heart
12	chr8:103388400-103398400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:103388400-103406400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:103388400-103416600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:103388800-103400000	Weak transcription	HUVEC	blood vessel
16	chr8:103393600-103400800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr8:103393800-103400600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr8:103394600-103407200	Weak transcription	Pancreas	Pancrea
19	chr8:103394800-103403800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:103395000-103406800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:103395200-103398400	Enhancers	Liver	Liver
22	chr8:103395200-103406800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:103395200-103406800	Weak transcription	Brain Substantia Nigra	brain
24	chr8:103395400-103402800	Weak transcription	Thymus	Thymus
25	chr8:103395600-103406800	Weak transcription	Brain Angular Gyrus	brain
26	chr8:103395600-103407200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:103395800-103398600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:103395800-103400600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr8:103395800-103400600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:103395800-103401800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:103395800-103402600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:103395800-103402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:103395800-103402800	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:103395800-103402800	Weak transcription	Placenta	Placenta
35	chr8:103395800-103406800	Weak transcription	Aorta	Aorta
36	chr8:103395800-103420800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:103395800-103422200	Weak transcription	HSMMtube	muscle
38	chr8:103396000-103400400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:103396000-103401200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:103396000-103405800	Weak transcription	Right Atrium	heart
41	chr8:103396000-103410200	Weak transcription	Brain Germinal Matrix	brain
42	chr8:103396200-103399200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:103396200-103399800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:103396200-103400000	Weak transcription	HSMM	muscle
45	chr8:103396200-103401000	Weak transcription	NHLF	lung
46	chr8:103396200-103402400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:103396200-103402800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:103396200-103402800	Weak transcription	Fetal Lung	lung
49	chr8:103396200-103402800	Weak transcription	Fetal Thymus	thymus
50	chr8:103396200-103403600	Weak transcription	NH-A	brain

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