Variant report

Variant	rs10904311
Chromosome Location	chr10:4695051-4695052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr10:4694888-4695076	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:4694908-4695081	HepG2	liver:	n/a	n/a
3	MAFK	chr10:4694902-4695102	HepG2	liver:	n/a	n/a
4	E2F6	chr10:4694463-4695148	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:3827665..3830468-chr10:4693096..4697578,6	MCF-7	breast:
2	chr10:4692495..4696289-chr10:4704356..4708036,4	MCF-7	breast:
3	chr10:4694173..4696454-chr10:4704960..4707093,2	K562	blood:

Variant related genes	Relation type
LINC00705	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1025921	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10444199	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10508286	0.86[JPT][hapmap];0.93[YRI][hapmap];0.92[ASN][1000 genomes]
rs10795195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10904310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904312	0.89[ASN][1000 genomes]
rs10904313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10904316	0.97[ASN][1000 genomes]
rs11252641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11252642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11252646	0.88[ASN][1000 genomes]
rs11252648	0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs11252653	0.98[ASN][1000 genomes]
rs12780788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12782668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1498270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1838239	0.82[YRI][hapmap]
rs2083873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2088500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2165953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2165955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173368	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs313453	0.83[AMR][1000 genomes];0.89[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	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv1798456	chr10:4689138-4731081	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1817443	chr10:4689138-4731081	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1831014	chr10:4689138-4731081	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1838419	chr10:4689138-4731081	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1805926	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv1809203	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1840346	chr10:4689842-4720626	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1842933	chr10:4689842-4720626	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1848476	chr10:4689842-4720626	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4680600-4703800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:4690000-4697200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr10:4692600-4695600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr10:4693000-4695400	Weak transcription	Fetal Kidney	kidney
5	chr10:4693000-4703000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr10:4693000-4703600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr10:4693000-4703600	Weak transcription	Right Atrium	heart
8	chr10:4693200-4695400	Weak transcription	Lung	lung
9	chr10:4693200-4697200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:4693200-4697200	Weak transcription	Fetal Muscle Leg	muscle
11	chr10:4693200-4697200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:4693200-4697400	Weak transcription	Osteobl	bone
13	chr10:4693200-4697600	Weak transcription	Adipose Nuclei	Adipose
14	chr10:4693200-4699000	Weak transcription	HSMM	muscle
15	chr10:4693200-4702400	Weak transcription	Psoas Muscle	Psoas
16	chr10:4693200-4702400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr10:4693200-4703000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:4693200-4703000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr10:4693200-4703800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:4693200-4703800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:4693200-4703800	Weak transcription	Pancreas	Pancrea
22	chr10:4693400-4698400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr10:4694200-4695200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:4694200-4695600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:4694200-4696200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr10:4694400-4696000	Strong transcription	HUVEC	blood vessel
27	chr10:4694600-4703800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:4694800-4695600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:4694800-4697200	Weak transcription	NHDF-Ad	bronchial
30	chr10:4694800-4697400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr10:4694800-4698800	Weak transcription	Dnd41	blood
32	chr10:4694800-4701600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr10:4694800-4704200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr10:4695000-4695200	Flanking Active TSS	Liver	Liver
35	chr10:4695000-4695400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr10:4695000-4695800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr10:4695000-4696000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr10:4695000-4697600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:4695000-4699000	Weak transcription	Stomach Mucosa	stomach
40	chr10:4695000-4699000	Weak transcription	HMEC	breast
41	chr10:4695000-4699800	Weak transcription	NHEK	skin

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