Variant report

Variant	rs11101349
Chromosome Location	chr10:49715108-49715109
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49707073..49711100-chr10:49713490..49716250,3	K562	blood:
2	chr10:49713932..49717816-chr10:49742746..49746059,3	K562	blood:
3	chr10:49714228..49715170-chr10:49863936..49864963,7	MCF-7	breast:
4	chr10:49423270..49424166-chr10:49714289..49715192,4	K562	blood:
5	chr10:49712691..49716238-chr10:49728195..49733174,5	K562	blood:
6	chr10:49637915..49640231-chr10:49714306..49716127,2	K562	blood:
7	chr10:49615597..49618030-chr10:49714235..49716218,3	K562	blood:
8	chr10:49512115..49516800-chr10:49713626..49715542,4	K562	blood:
9	chr10:49714827..49719872-chr10:49861427..49864767,4	K562	blood:
10	chr10:49715021..49718761-chr10:49720982..49725227,3	K562	blood:
11	chr10:49713826..49717579-chr10:49717710..49719906,5	K562	blood:
12	chr10:49653221..49653731-chr10:49714626..49715186,2	MCF-7	breast:
13	chr10:49423588..49424151-chr10:49714065..49715162,3	MCF-7	breast:
14	chr10:49714746..49717330-chr10:49717821..49719600,2	MCF-7	breast:
15	chr10:49714336..49715131-chr17:58308612..58309289,2	MCF-7	breast:
16	chr10:49714562..49719396-chr10:49719920..49724610,6	K562	blood:
17	chr10:49652071..49653009-chr10:49714464..49715277,3	K562	blood:
18	chr10:49578295..49578943-chr10:49714392..49715251,2	K562	blood:
19	chr10:49513508..49515174-chr10:49713887..49715575,2	K562	blood:
20	chr10:49652115..49653152-chr10:49714314..49715226,3	MCF-7	breast:
21	chr10:49571331..49572802-chr10:49714283..49715560,20	K562	blood:
22	chr10:49698265..49700401-chr10:49714707..49717015,2	K562	blood:
23	chr10:49571375..49572211-chr10:49714319..49715238,7	MCF-7	breast:
24	chr10:49713648..49715470-chr10:49724741..49727947,3	K562	blood:
25	chr10:49571485..49572253-chr10:49714436..49715142,2	MCF-7	breast:
26	chr10:49652137..49653652-chr10:49714272..49715285,12	MCF-7	breast:
27	chr10:49649446..49650312-chr10:49714228..49715210,2	MCF-7	breast:
28	chr10:49663675..49666041-chr10:49714852..49717938,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248682	Chromatin interaction
ENSG00000107643	Chromatin interaction
ENSG00000128805	Chromatin interaction
ENSG00000252577	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10776611	0.90[JPT][hapmap]
rs10776612	0.88[CHD][hapmap];0.90[JPT][hapmap]
rs10857582	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs11101344	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11101345	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11101350	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11101351	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101352	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11101353	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11817012	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs12220948	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12763969	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12768718	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12777004	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278676	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3889332	0.83[CHB][hapmap]
rs4012792	0.84[JPT][hapmap]
rs4838413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838414	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838415	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4838416	0.88[CHD][hapmap];0.90[JPT][hapmap]
rs4838608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4838609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838616	0.86[CHD][hapmap];0.84[JPT][hapmap]
rs6537563	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537564	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7093185	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7098760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7895625	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7896115	0.91[CHD][hapmap];0.90[JPT][hapmap]
rs7898936	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7910327	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs935273	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv516006	chr10:49707942-49723300	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49701600-49716400	Weak transcription	Right Atrium	heart
3	chr10:49702400-49718200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:49705400-49716600	Weak transcription	Brain Angular Gyrus	brain
5	chr10:49705600-49715600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:49706000-49716600	Weak transcription	HMEC	breast
7	chr10:49706000-49723400	Weak transcription	NH-A	brain
8	chr10:49706200-49716400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:49707400-49716600	Weak transcription	Fetal Stomach	stomach
10	chr10:49707600-49716600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr10:49709200-49720600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:49709600-49716800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr10:49710000-49718600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:49710600-49718600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:49710600-49719200	Weak transcription	Pancreas	Pancrea
16	chr10:49710800-49716400	Weak transcription	Fetal Muscle Leg	muscle
17	chr10:49711400-49715200	Strong transcription	NHLF	lung
18	chr10:49711800-49716400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr10:49711800-49718400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:49712400-49716400	Weak transcription	Spleen	Spleen
21	chr10:49712600-49717800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:49712800-49715200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr10:49712800-49716200	Weak transcription	NHDF-Ad	bronchial
24	chr10:49712800-49716400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:49712800-49718000	Weak transcription	Fetal Thymus	thymus
26	chr10:49713000-49716400	Weak transcription	Ovary	ovary
27	chr10:49713000-49716800	Weak transcription	Fetal Heart	heart
28	chr10:49713000-49719200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr10:49713200-49716400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:49713800-49715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:49713800-49715400	Strong transcription	HSMM	muscle
32	chr10:49714000-49715200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr10:49714000-49715400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr10:49714000-49715600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr10:49714000-49716800	Weak transcription	Brain Anterior Caudate	brain
36	chr10:49714000-49727200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:49714200-49715200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr10:49714400-49716400	Weak transcription	Osteobl	bone
39	chr10:49714400-49716600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr10:49714600-49715600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr10:49714600-49716400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr10:49714600-49717400	Enhancers	K562	blood
43	chr10:49714800-49716200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr10:49715000-49715600	Enhancers	HepG2	liver
45	chr10:49715000-49717400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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