Variant report

Variant	rs4725685
Chromosome Location	chr7:140057384-140057385
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	chr7:140052459..140054408-chr7:140056120..140059511,3	K562	blood:
2	chr7:140043729..140046377-chr7:140056473..140058726,2	K562	blood:

Variant related genes	Relation type
ENSG00000157800	Chromatin interaction

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

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

rs_ID	r²[population]
rs10258709	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12665885	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12671831	0.80[EUR][1000 genomes]
rs12673021	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12703771	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12703772	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12703774	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12703775	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12703777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12703778	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12703782	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12703783	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12703792	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12703794	0.84[ASN][1000 genomes]
rs12703795	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12703797	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13232870	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233309	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13244256	0.84[EUR][1000 genomes]
rs3924962	0.89[EUR][1000 genomes]
rs4726780	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62490396	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6953981	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6957189	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6967815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777207	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7778099	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7792038	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9691058	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9692001	0.85[AMR][1000 genomes];0.89[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	chr7:140038600-140060400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:140039200-140060400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:140039400-140058600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:140039600-140057400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr7:140042000-140084800	Weak transcription	Hela-S3	cervix
15	chr7:140043000-140058200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:140043000-140060400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:140043200-140058000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:140045800-140058200	Weak transcription	Esophagus	oesophagus
19	chr7:140046000-140076200	Weak transcription	Right Ventricle	heart
20	chr7:140047600-140084200	Weak transcription	Fetal Brain Male	brain
21	chr7:140047800-140064400	Weak transcription	HMEC	breast
22	chr7:140048000-140058400	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:140048200-140058000	Weak transcription	A549	lung
24	chr7:140049200-140058400	Weak transcription	NHLF	lung
25	chr7:140049200-140060400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:140049200-140090200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:140049400-140058200	Weak transcription	NHEK	skin
28	chr7:140049600-140060400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:140049600-140061200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr7:140049600-140061200	Strong transcription	Dnd41	blood
31	chr7:140049600-140067800	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:140049600-140076000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:140049600-140078000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:140049600-140078600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:140049600-140079400	Weak transcription	Brain Substantia Nigra	brain
36	chr7:140049800-140058200	Strong transcription	Fetal Thymus	thymus
37	chr7:140049800-140060000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:140049800-140061000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:140050000-140058400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:140050000-140060000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:140050000-140060400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:140050000-140061000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:140050000-140061000	Strong transcription	Stomach Smooth Muscle	stomach
44	chr7:140050200-140061200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:140050200-140079200	Weak transcription	HUVEC	blood vessel
46	chr7:140050600-140057600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:140050800-140058600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:140051000-140061000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:140051200-140058200	Weak transcription	Brain Anterior Caudate	brain
50	chr7:140051400-140057400	Strong transcription	Osteobl	bone

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