Variant report

Variant	rs13275368
Chromosome Location	chr8:10687948-10687949
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	chr8:10687872-10687961	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10687103..10689280-chr8:10695921..10698730,3	MCF-7	breast:
2	chr8:10442713..10444669-chr8:10687154..10689359,2	K562	blood:
3	chr8:10675871..10677525-chr8:10687580..10689455,2	MCF-7	breast:
4	chr8:10687146..10690339-chr8:10690695..10692954,3	K562	blood:
5	chr8:10687156..10690707-chr8:10693616..10698468,7	K562	blood:
6	chr8:10683001..10685748-chr8:10686026..10689497,3	K562	blood:

No data

Variant related genes	Relation type
PINX1	TF binding region
ENSG00000258724	Chromatin interaction
ENSG00000253695	Chromatin interaction
ENSG00000254093	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10102073	1.00[CHB][hapmap]
rs1052523	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11786713	1.00[CHB][hapmap]
rs11997941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546540	1.00[ASN][1000 genomes]
rs13256603	0.85[EUR][1000 genomes]
rs13256636	0.85[EUR][1000 genomes]
rs13259547	1.00[CHB][hapmap]
rs13261103	1.00[CHB][hapmap]
rs13277664	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs13280573	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs17152329	1.00[CHB][hapmap]
rs17152399	1.00[CHB][hapmap]
rs17152442	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17152492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs17721019	0.87[EUR][1000 genomes]
rs2033368	1.00[ASN][1000 genomes]
rs2409652	1.00[ASN][1000 genomes]
rs2409653	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409654	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2409655	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2409656	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2409666	1.00[ASN][1000 genomes]
rs2898244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898246	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs34349857	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34535545	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35039898	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35660623	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35873156	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129653	1.00[CHB][hapmap]
rs4310166	1.00[CHB][hapmap]
rs60666967	1.00[ASN][1000 genomes]
rs61064518	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601531	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6601532	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6601537	1.00[CHB][hapmap]
rs6601538	1.00[CHB][hapmap]
rs6982062	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6983180	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6984171	1.00[ASN][1000 genomes]
rs6987083	1.00[CHB][hapmap]
rs6989930	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6990041	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992312	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6993463	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs6993632	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs6993753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005389	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7006707	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7009841	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7010246	1.00[CHB][hapmap]
rs7015820	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73209946	1.00[ASN][1000 genomes]
rs73529608	0.93[EUR][1000 genomes]
rs73531562	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73662638	1.00[ASN][1000 genomes]
rs73662640	1.00[ASN][1000 genomes]
rs73662642	1.00[ASN][1000 genomes]
rs73662643	1.00[ASN][1000 genomes]
rs7463228	1.00[CHB][hapmap]
rs753786	1.00[ASN][1000 genomes]
rs7813417	1.00[CHB][hapmap]
rs7814489	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822821	1.00[CHB][hapmap]
rs7824878	1.00[CHB][hapmap]
rs7833599	1.00[CHB][hapmap]
rs7838734	1.00[CHB][hapmap]
rs7840610	1.00[CHB][hapmap]
rs7840769	1.00[CHB][hapmap]
rs891557	1.00[CHB][hapmap]
rs934325	1.00[CHB][hapmap]
rs9969476	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10663000-10696200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:10665800-10688200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:10666400-10695200	Strong transcription	Primary T cells from cord blood	blood
4	chr8:10666800-10692400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:10667600-10693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:10668400-10696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:10669200-10692800	Strong transcription	Primary B cells from cord blood	blood
8	chr8:10669400-10692200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr8:10669600-10691800	Strong transcription	GM12878-XiMat	blood
10	chr8:10669600-10692800	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:10670200-10692000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:10670400-10692800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:10671400-10692000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:10673000-10692000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr8:10673200-10692200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr8:10673200-10692400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:10673800-10692000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:10674000-10690200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:10674400-10692000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr8:10674400-10692800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:10674600-10692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:10674600-10692000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:10674600-10692000	Strong transcription	Fetal Muscle Leg	muscle
24	chr8:10674600-10692200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:10674600-10692200	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:10674600-10693200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:10674800-10696200	Weak transcription	Stomach Mucosa	stomach
28	chr8:10675000-10693000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:10676200-10696200	Weak transcription	Fetal Heart	heart
30	chr8:10677200-10692400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:10677200-10692400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:10677200-10692400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:10678400-10692000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:10678400-10692200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr8:10678400-10692800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr8:10678600-10692400	Strong transcription	Left Ventricle	heart
37	chr8:10678800-10692400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr8:10679200-10693000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:10679600-10691000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:10679600-10692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:10680400-10692000	Strong transcription	Adipose Nuclei	Adipose
42	chr8:10680400-10692000	Strong transcription	Fetal Intestine Large	intestine
43	chr8:10680400-10692200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:10680400-10692800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:10680400-10692800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr8:10680400-10692800	Strong transcription	Dnd41	blood
47	chr8:10680600-10691000	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr8:10680600-10691000	Strong transcription	HSMMtube	muscle
49	chr8:10680600-10691800	Strong transcription	Lung	lung
50	chr8:10680600-10692200	Strong transcription	H1 Cell Line	embryonic stem cell

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