Variant report

Variant	rs10509672
Chromosome Location	chr10:96115957-96115958
allele	C/G
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	EP300	chr10:96115622-96116022	SK-N-SH_RA	brain:	n/a	chr10:96116013-96116022 chr10:96115754-96115768 chr10:96115832-96115846
2	EP300	chr10:96115341-96116199	SK-N-SH	brain:	n/a	chr10:96116013-96116022 chr10:96115754-96115768 chr10:96115832-96115846
3	EP300	chr10:96115511-96115988	SK-N-SH_RA	brain:	n/a	chr10:96115754-96115768 chr10:96115832-96115846

No.	Distal block	Cell Line	Cell type
1	chr10:96114296..96117102-chr10:96120452..96122328,2	MCF-7	breast:
2	chr10:96110502..96112144-chr10:96114366..96116486,2	K562	blood:
3	chr10:96110061..96112144-chr10:96114986..96116782,2	K562	blood:

Variant related genes	Relation type
NOC3L	TF binding region
ENSG00000173145	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11187826	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11187837	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs11187840	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11187842	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11187845	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11187847	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11187852	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11187856	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11187863	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11187864	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11187866	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11187870	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11187877	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11187882	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11187883	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11187890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11187895	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11187897	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11187906	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11187907	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11187969	1.00[YRI][hapmap]
rs12217792	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12219063	0.95[ASN][1000 genomes]
rs12220091	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12780491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17109875	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs3740359	0.84[EUR][1000 genomes]
rs3740360	1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs3740365	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3781266	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7077192	0.95[ASN][1000 genomes]
rs7081265	1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs7096883	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7100626	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7100870	0.93[ASN][1000 genomes]
rs7101207	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs752140	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs753724	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription 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	14 gene(s)	inside rSNPs	diseases
2	nsv831946	chr10:96055190-96226438	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96031800-96121000	Weak transcription	Stomach Mucosa	stomach
2	chr10:96043600-96121000	Weak transcription	Psoas Muscle	Psoas
3	chr10:96078200-96121600	Weak transcription	Fetal Brain Male	brain
4	chr10:96080400-96121000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:96081000-96118200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:96081200-96118400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr10:96081600-96117400	Strong transcription	NH-A	brain
8	chr10:96081600-96121000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr10:96081600-96121000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr10:96081800-96117400	Strong transcription	HSMM	muscle
11	chr10:96081800-96121000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:96081800-96121000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:96082000-96118400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:96082400-96121000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr10:96083000-96119800	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr10:96083200-96118800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr10:96084400-96118200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:96085000-96121000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr10:96085000-96122200	Weak transcription	Gastric	stomach
20	chr10:96086200-96121200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr10:96087600-96118600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr10:96087600-96121200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:96088000-96118000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:96088200-96121800	Weak transcription	Aorta	Aorta
25	chr10:96089000-96120600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:96089200-96119800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:96089600-96121000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr10:96089800-96117600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:96089800-96119000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr10:96089800-96119400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr10:96089800-96119400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr10:96090400-96121000	Weak transcription	Fetal Heart	heart
33	chr10:96091000-96119800	Strong transcription	Liver	Liver
34	chr10:96096200-96121000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr10:96096400-96117800	Strong transcription	HMEC	breast
36	chr10:96098600-96117400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:96100000-96118000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr10:96100000-96121800	Weak transcription	Colonic Mucosa	Colon
39	chr10:96100200-96116200	Weak transcription	Brain Substantia Nigra	brain
40	chr10:96101400-96118800	Strong transcription	A549	lung
41	chr10:96101600-96118200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr10:96101800-96117400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:96102800-96121000	Weak transcription	Brain Angular Gyrus	brain
44	chr10:96103400-96116400	Weak transcription	Brain Germinal Matrix	brain
45	chr10:96104200-96121000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr10:96104600-96118000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr10:96104600-96120600	Weak transcription	Small Intestine	intestine
48	chr10:96104600-96121000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr10:96105800-96121000	Strong transcription	Primary B cells from cord blood	blood
50	chr10:96107400-96118000	Strong transcription	Hela-S3	cervix

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