Variant report

Variant	rs10157636
Chromosome Location	chr1:56987415-56987416
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	POLR2A	chr1:56986985-56987965	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:56986922-56987789	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56986987..56987522-chr1:57013439..57014094,2	MCF-7	breast:
2	chr1:56982104..56984757-chr1:56986509..56989036,2	MCF-7	breast:

Variant related genes	Relation type
PPAP2B	TF binding region
ENSG00000162407	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10888977	0.81[JPT][hapmap]
rs10888979	0.81[YRI][hapmap]
rs11206839	0.84[YRI][hapmap]
rs11206841	0.84[YRI][hapmap]
rs11583161	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[ASN][1000 genomes]
rs11590570	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[ASN][1000 genomes]
rs12081589	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12084507	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1759752	0.82[JPT][hapmap]
rs4912314	0.95[JPT][hapmap]
rs57966457	0.94[ASN][1000 genomes]
rs58289463	0.90[ASN][1000 genomes]
rs60314060	0.94[ASN][1000 genomes]
rs6690245	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs72664330	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7512545	1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[ASN][1000 genomes]
rs7515808	0.95[JPT][hapmap]
rs7519268	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[ASN][1000 genomes]
rs7554557	0.82[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56972400-56990800	Strong transcription	HSMM	muscle
3	chr1:56976400-56991600	Strong transcription	Fetal Stomach	stomach
4	chr1:56976800-56992400	Weak transcription	Brain Germinal Matrix	brain
5	chr1:56977200-56990600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:56977800-56989200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:56977800-56991200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:56977800-56999200	Weak transcription	A549	lung
9	chr1:56978000-56987600	Weak transcription	Dnd41	blood
10	chr1:56978000-56987800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr1:56978000-56989200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:56978000-56991400	Weak transcription	Fetal Brain Male	brain
13	chr1:56978000-56992600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:56979200-56992600	Strong transcription	HepG2	liver
15	chr1:56980600-56991600	Genic enhancers	Left Ventricle	heart
16	chr1:56982000-56989400	Weak transcription	Gastric	stomach
17	chr1:56982200-56987800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:56982400-56989400	Weak transcription	Esophagus	oesophagus
19	chr1:56982800-56987800	Weak transcription	Brain Angular Gyrus	brain
20	chr1:56982800-56987800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:56983000-56987800	Weak transcription	HUVEC	blood vessel
22	chr1:56983000-56988200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:56983000-56988400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:56983000-56990000	Strong transcription	Fetal Muscle Leg	muscle
25	chr1:56983200-56989400	Weak transcription	Primary B cells from cord blood	blood
26	chr1:56983200-56991200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr1:56983200-56991400	Strong transcription	Osteobl	bone
28	chr1:56983200-56992400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:56983400-56987800	Weak transcription	Brain Anterior Caudate	brain
30	chr1:56983400-56992200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:56983400-57000800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr1:56983600-56988400	Weak transcription	Stomach Mucosa	stomach
33	chr1:56983600-56991200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:56983800-56991000	Strong transcription	Fetal Intestine Large	intestine
35	chr1:56983800-56991200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:56984000-56989400	Weak transcription	NH-A	brain
37	chr1:56984000-56990600	Weak transcription	Small Intestine	intestine
38	chr1:56984200-56988400	Weak transcription	Spleen	Spleen
39	chr1:56984200-56988600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:56984200-56992000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:56984200-56992200	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:56984200-56992400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:56985000-56989400	Weak transcription	Colonic Mucosa	Colon
44	chr1:56985000-56993400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:56985000-56993600	Weak transcription	Fetal Brain Female	brain
46	chr1:56985400-56987800	Weak transcription	Fetal Kidney	kidney
47	chr1:56985400-56987800	Weak transcription	Lung	lung
48	chr1:56985400-56989200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:56985400-56989200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:56985400-56991400	Strong transcription	H1 Cell Line	embryonic stem cell

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