Variant report

Variant	rs12703782
Chromosome Location	chr7:140054395-140054396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140052459..140054408-chr7:140056120..140059511,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10258709	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12665885	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12671831	0.80[AMR][1000 genomes]
rs12673021	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12703771	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12703772	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12703774	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12703775	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12703777	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12703778	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12703783	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12703792	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12703794	0.84[ASN][1000 genomes]
rs12703795	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12703797	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13232870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13244256	0.83[EUR][1000 genomes]
rs3924962	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4725685	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4726780	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62490396	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6953981	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6957189	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6967815	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777207	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7778099	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7792038	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9691058	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9692001	0.86[AMR][1000 genomes];0.87[EUR][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	nsv1022919	chr7:140043299-140120546	Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2762706	chr7:140054170-140119629	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr7:140026600-140060600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:140033600-140096000	Weak transcription	Stomach Mucosa	stomach
3	chr7:140034800-140085600	Weak transcription	Psoas Muscle	Psoas
4	chr7:140035000-140074200	Weak transcription	Right Atrium	heart
5	chr7:140035200-140058200	Weak transcription	Small Intestine	intestine
6	chr7:140035200-140060600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:140038000-140060200	Strong transcription	Primary T cells from cord blood	blood
8	chr7:140038000-140061000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:140038200-140061200	Strong transcription	Fetal Stomach	stomach
10	chr7:140038600-140055600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:140038600-140056800	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr7:140038600-140060400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:140039000-140055800	Strong transcription	Liver	Liver
14	chr7:140039200-140060400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:140039400-140058600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:140039600-140057400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr7:140039800-140054800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:140039800-140055600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:140040000-140056800	Strong transcription	Fetal Intestine Large	intestine
20	chr7:140040600-140055000	Strong transcription	Primary B cells from cord blood	blood
21	chr7:140042000-140084800	Weak transcription	Hela-S3	cervix
22	chr7:140043000-140058200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:140043000-140060400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:140043200-140058000	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:140044600-140055600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr7:140044600-140056800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr7:140044800-140057000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:140045800-140058200	Weak transcription	Esophagus	oesophagus
29	chr7:140046000-140076200	Weak transcription	Right Ventricle	heart
30	chr7:140046400-140056400	Weak transcription	Colonic Mucosa	Colon
31	chr7:140046800-140055600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr7:140046800-140055600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:140046800-140056800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:140047000-140057200	Strong transcription	K562	blood
35	chr7:140047200-140054600	Strong transcription	Placenta	Placenta
36	chr7:140047200-140054800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:140047600-140084200	Weak transcription	Fetal Brain Male	brain
38	chr7:140047800-140064400	Weak transcription	HMEC	breast
39	chr7:140048000-140058400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:140048200-140058000	Weak transcription	A549	lung
41	chr7:140048800-140055600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:140049200-140058400	Weak transcription	NHLF	lung
43	chr7:140049200-140060400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:140049200-140090200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:140049400-140055200	Strong transcription	Brain Germinal Matrix	brain
46	chr7:140049400-140058200	Weak transcription	NHEK	skin
47	chr7:140049600-140056800	Strong transcription	Fetal Muscle Leg	muscle
48	chr7:140049600-140060400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:140049600-140061200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr7:140049600-140061200	Strong transcription	Dnd41	blood

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