Variant report

Variant	rs4970925
Chromosome Location	chr1:150466274-150466275
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150458453..150462100-chr1:150463666..150466292,4	K562	blood:
2	chr1:150464206..150466889-chr1:150476033..150478905,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143374	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11810419	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12116970	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12129037	0.89[ASN][1000 genomes]
rs12718416	0.96[ASN][1000 genomes]
rs12729719	0.96[ASN][1000 genomes]
rs13057	0.82[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16830437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16835699	0.85[ASN][1000 genomes]
rs16835708	0.85[ASN][1000 genomes]
rs16835782	0.85[ASN][1000 genomes]
rs16835791	0.85[ASN][1000 genomes]
rs16835911	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16836130	0.89[ASN][1000 genomes]
rs16836139	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16836442	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16836576	0.93[ASN][1000 genomes]
rs16836594	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16836601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16836786	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16836940	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16836943	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1694386	0.83[JPT][hapmap]
rs17599629	0.83[JPT][hapmap]
rs2015966	0.89[ASN][1000 genomes]
rs2275245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2275779	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3737319	0.89[ASN][1000 genomes]
rs3738322	0.83[ASN][1000 genomes]
rs3795702	0.86[CHB][hapmap];1.00[AFR][1000 genomes]
rs3806389	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3850843	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4926420	0.89[ASN][1000 genomes]
rs4926421	1.00[JPT][hapmap]
rs4926430	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4970927	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4970946	0.96[ASN][1000 genomes]
rs4970947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4971044	0.88[CHB][hapmap]
rs522068	0.87[ASN][1000 genomes]
rs56882505	0.93[ASN][1000 genomes]
rs56909494	0.93[ASN][1000 genomes]
rs57163995	0.89[ASN][1000 genomes]
rs57263353	1.00[AFR][1000 genomes]
rs57272513	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57361164	0.85[ASN][1000 genomes]
rs57971032	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58419446	0.91[ASN][1000 genomes]
rs58516261	0.89[ASN][1000 genomes]
rs58537074	1.00[AFR][1000 genomes]
rs58585637	1.00[AFR][1000 genomes]
rs59367061	0.93[ASN][1000 genomes]
rs59378360	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs59639798	0.93[ASN][1000 genomes]
rs59662772	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60459288	0.93[ASN][1000 genomes]
rs60531845	0.89[ASN][1000 genomes]
rs60730811	0.89[ASN][1000 genomes]
rs60758881	0.87[ASN][1000 genomes]
rs6663989	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs6679726	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6680391	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6700009	0.89[ASN][1000 genomes]
rs6700607	0.85[ASN][1000 genomes]
rs71622690	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73011384	0.85[ASN][1000 genomes]
rs73011400	0.85[ASN][1000 genomes]
rs73013119	0.85[ASN][1000 genomes]
rs73013129	0.89[ASN][1000 genomes]
rs73015063	0.89[ASN][1000 genomes]
rs73015078	0.89[ASN][1000 genomes]
rs73015081	0.89[ASN][1000 genomes]
rs73015095	0.89[ASN][1000 genomes]
rs73015096	0.89[ASN][1000 genomes]
rs73017006	0.89[ASN][1000 genomes]
rs73017073	0.93[ASN][1000 genomes]
rs73017086	0.93[ASN][1000 genomes]
rs73017092	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73017102	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019017	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019018	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019020	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019021	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019027	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019028	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs871527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs953127	0.87[AMR][1000 genomes];1.00[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	chr1:150460600-150469000	Weak transcription	Pancreas	Pancrea
2	chr1:150460600-150480200	Weak transcription	Right Atrium	heart
3	chr1:150460600-150480200	Weak transcription	Stomach Mucosa	stomach
4	chr1:150460800-150468600	Weak transcription	NHDF-Ad	bronchial
5	chr1:150460800-150470000	Weak transcription	HMEC	breast
6	chr1:150460800-150470600	Weak transcription	Fetal Brain Male	brain
7	chr1:150460800-150476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:150460800-150478000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:150460800-150480000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:150461000-150486800	Weak transcription	Fetal Heart	heart
11	chr1:150461200-150466400	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:150461200-150466800	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr1:150461200-150473600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:150461200-150478200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:150461200-150478600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:150461400-150466400	Strong transcription	Brain Angular Gyrus	brain
17	chr1:150461400-150466400	Strong transcription	Brain Hippocampus Middle	brain
18	chr1:150461400-150466600	Strong transcription	Placenta	Placenta
19	chr1:150461400-150466600	Strong transcription	NH-A	brain
20	chr1:150461400-150466800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:150461400-150466800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:150461400-150466800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:150461400-150466800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:150461400-150466800	Strong transcription	Brain Anterior Caudate	brain
25	chr1:150461400-150466800	Strong transcription	Thymus	Thymus
26	chr1:150461400-150466800	Strong transcription	NHEK	skin
27	chr1:150461400-150466800	Strong transcription	Osteobl	bone
28	chr1:150461400-150467000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:150461400-150467000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:150461400-150467000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr1:150461400-150467000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:150461400-150467000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:150461400-150467000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:150461400-150467000	Strong transcription	Fetal Thymus	thymus
35	chr1:150461400-150467000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr1:150461400-150467200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:150461400-150467200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:150461400-150467200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr1:150461400-150467400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:150461400-150470800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:150461400-150475800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:150461400-150480000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:150461400-150480400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:150461400-150480400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr1:150461400-150480600	Strong transcription	Fetal Intestine Large	intestine
46	chr1:150461600-150466400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:150461600-150466400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:150461600-150466400	Strong transcription	Primary T cells from cord blood	blood
49	chr1:150461600-150466400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr1:150461600-150466400	Strong transcription	Brain Cingulate Gyrus	brain

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