Variant report

Variant	rs4970927
Chromosome Location	chr1:150476786-150476787
allele	A/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	POLR2A	chr1:150476662-150476943	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:150476685-150476883	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150476754..150479355-chr1:150479749..150481749,3	K562	blood:
2	chr1:150464206..150466889-chr1:150476033..150478905,2	MCF-7	breast:
3	chr1:150475757..150478254-chr1:150479608..150481543,2	K562	blood:
4	chr1:150474284..150478423-chr1:150479020..150481342,4	MCF-7	breast:

Variant related genes	Relation type
ECM1	TF binding region
TARS2	TF binding region
ENSG00000143374	Chromatin interaction
ENSG00000143369	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs11810419	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs12116970	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12129037	0.94[ASN][1000 genomes]
rs12718416	0.91[ASN][1000 genomes]
rs12729719	0.92[ASN][1000 genomes]
rs13057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16830437	0.81[ASN][1000 genomes]
rs16835699	0.81[ASN][1000 genomes]
rs16835708	0.81[ASN][1000 genomes]
rs16835782	0.81[ASN][1000 genomes]
rs16835791	0.81[ASN][1000 genomes]
rs16835911	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16836130	0.85[ASN][1000 genomes]
rs16836139	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16836442	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16836576	0.89[ASN][1000 genomes]
rs16836594	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16836601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16836786	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16836940	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16836943	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1694386	0.89[JPT][hapmap]
rs2015966	0.85[ASN][1000 genomes]
rs2275245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2275779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3737319	0.85[ASN][1000 genomes]
rs3795702	1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs3806389	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3850843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4926420	0.85[ASN][1000 genomes]
rs4926421	1.00[JPT][hapmap]
rs4926430	0.93[ASN][1000 genomes]
rs4970925	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4970946	0.92[ASN][1000 genomes]
rs4970947	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs522068	0.83[ASN][1000 genomes]
rs56882505	0.89[ASN][1000 genomes]
rs56909494	0.89[ASN][1000 genomes]
rs57163995	0.85[ASN][1000 genomes]
rs57263353	1.00[AFR][1000 genomes]
rs57272513	0.89[ASN][1000 genomes]
rs57361164	0.81[ASN][1000 genomes]
rs57971032	0.89[ASN][1000 genomes]
rs58419446	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58516261	0.85[ASN][1000 genomes]
rs58537074	1.00[AFR][1000 genomes]
rs58585637	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59367061	0.89[ASN][1000 genomes]
rs59378360	0.93[ASN][1000 genomes]
rs59639798	0.89[ASN][1000 genomes]
rs59662772	0.89[ASN][1000 genomes]
rs60459288	0.89[ASN][1000 genomes]
rs60531845	0.85[ASN][1000 genomes]
rs60730811	0.85[ASN][1000 genomes]
rs60758881	0.83[ASN][1000 genomes]
rs6663989	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs6679726	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6680391	0.89[ASN][1000 genomes]
rs6700009	0.85[ASN][1000 genomes]
rs6700607	0.81[ASN][1000 genomes]
rs71622690	0.85[ASN][1000 genomes]
rs73011400	0.81[ASN][1000 genomes]
rs73013119	0.81[ASN][1000 genomes]
rs73013129	0.85[ASN][1000 genomes]
rs73015063	0.85[ASN][1000 genomes]
rs73015078	0.85[ASN][1000 genomes]
rs73015081	0.85[ASN][1000 genomes]
rs73015095	0.85[ASN][1000 genomes]
rs73015096	0.85[ASN][1000 genomes]
rs73017006	0.85[ASN][1000 genomes]
rs73017073	0.89[ASN][1000 genomes]
rs73017086	0.89[ASN][1000 genomes]
rs73017092	0.93[ASN][1000 genomes]
rs73017102	0.89[ASN][1000 genomes]
rs73019017	0.89[ASN][1000 genomes]
rs73019018	0.89[ASN][1000 genomes]
rs73019020	0.89[ASN][1000 genomes]
rs73019021	0.89[ASN][1000 genomes]
rs73019027	0.89[ASN][1000 genomes]
rs73019028	0.89[ASN][1000 genomes]
rs871527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs953127	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 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	chr1:150460600-150480200	Weak transcription	Right Atrium	heart
2	chr1:150460600-150480200	Weak transcription	Stomach Mucosa	stomach
3	chr1:150460800-150476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:150460800-150478000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:150460800-150480000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:150461000-150486800	Weak transcription	Fetal Heart	heart
7	chr1:150461200-150478200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:150461200-150478600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:150461400-150480000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:150461400-150480400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:150461400-150480400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr1:150461400-150480600	Strong transcription	Fetal Intestine Large	intestine
13	chr1:150462000-150480000	Strong transcription	Fetal Stomach	stomach
14	chr1:150462000-150480600	Strong transcription	Fetal Intestine Small	intestine
15	chr1:150462000-150485800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:150463200-150479800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:150463400-150477600	Weak transcription	Fetal Kidney	kidney
18	chr1:150464000-150477000	Weak transcription	HUVEC	blood vessel
19	chr1:150464200-150476800	Weak transcription	Psoas Muscle	Psoas
20	chr1:150464800-150480200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:150466000-150477800	Weak transcription	Small Intestine	intestine
22	chr1:150468000-150479800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:150468000-150480800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:150468200-150478000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:150468200-150480200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:150468400-150477400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:150468400-150479600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:150468400-150479800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:150468400-150479800	Strong transcription	Fetal Thymus	thymus
30	chr1:150468400-150480200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:150468400-150480200	Strong transcription	Fetal Muscle Leg	muscle
32	chr1:150468400-150480800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:150468600-150478200	Strong transcription	Placenta	Placenta
34	chr1:150468600-150479600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr1:150468600-150479800	Strong transcription	Adipose Nuclei	Adipose
36	chr1:150468600-150480200	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr1:150468600-150481000	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:150468600-150481000	Strong transcription	Thymus	Thymus
39	chr1:150468800-150479800	Strong transcription	Lung	lung
40	chr1:150468800-150480000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:150468800-150483800	Strong transcription	Brain Germinal Matrix	brain
42	chr1:150470400-150478600	Strong transcription	Osteobl	bone
43	chr1:150471200-150478400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:150471400-150478000	Weak transcription	HMEC	breast
45	chr1:150471600-150480800	Strong transcription	Liver	Liver
46	chr1:150471800-150476800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:150471800-150476800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:150471800-150476800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:150471800-150476800	Weak transcription	Aorta	Aorta
50	chr1:150471800-150477200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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