Variant report

Variant	rs12673021
Chromosome Location	chr7:140077048-140077049
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	chr7:140075069..140077735-chr7:140096588..140099526,2	MCF-7	breast:
2	chr7:140075072..140077306-chr7:140082163..140084967,2	K562	blood:

Variant related genes	Relation type
ENSG00000157800	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10258709	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12665885	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12667471	0.81[AMR][1000 genomes]
rs12671831	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12703771	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12703772	0.83[EUR][1000 genomes]
rs12703774	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12703775	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12703777	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12703778	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12703782	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12703783	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12703792	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12703794	0.81[ASN][1000 genomes]
rs12703795	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12703797	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13232870	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13233309	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13244256	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3924962	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4725685	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4726780	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62490396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6953981	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6957189	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6967815	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7777207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7778099	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7792038	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9691058	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9692001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv522190	chr7:140066411-140130663	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	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	chr7:140033600-140096000	Weak transcription	Stomach Mucosa	stomach
2	chr7:140034800-140085600	Weak transcription	Psoas Muscle	Psoas
3	chr7:140042000-140084800	Weak transcription	Hela-S3	cervix
4	chr7:140047600-140084200	Weak transcription	Fetal Brain Male	brain
5	chr7:140049200-140090200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:140049600-140078000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:140049600-140078600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:140049600-140079400	Weak transcription	Brain Substantia Nigra	brain
9	chr7:140050200-140079200	Weak transcription	HUVEC	blood vessel
10	chr7:140052000-140097400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:140052800-140079600	Weak transcription	NHDF-Ad	bronchial
12	chr7:140054200-140079800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:140054600-140077800	Weak transcription	Brain Angular Gyrus	brain
14	chr7:140055000-140077800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:140055600-140079200	Weak transcription	Fetal Kidney	kidney
16	chr7:140056800-140077400	Weak transcription	NH-A	brain
17	chr7:140056800-140079400	Weak transcription	Colonic Mucosa	Colon
18	chr7:140058600-140077800	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:140058600-140096000	Weak transcription	Small Intestine	intestine
20	chr7:140058800-140077800	Weak transcription	Placenta	Placenta
21	chr7:140058800-140079200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:140058800-140081400	Weak transcription	A549	lung
23	chr7:140058800-140084400	Weak transcription	Gastric	stomach
24	chr7:140058800-140097200	Weak transcription	Brain Anterior Caudate	brain
25	chr7:140059400-140091400	Weak transcription	Fetal Heart	heart
26	chr7:140063400-140082600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:140065000-140077800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:140065200-140079200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:140066600-140077800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:140067800-140077800	Weak transcription	HSMMtube	muscle
31	chr7:140068000-140089000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:140068400-140078800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:140069000-140077400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:140069000-140077800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:140069000-140077800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr7:140069000-140078400	Weak transcription	Spleen	Spleen
37	chr7:140069200-140077800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr7:140069200-140077800	Weak transcription	Left Ventricle	heart
39	chr7:140069200-140082000	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:140069400-140077800	Weak transcription	Ovary	ovary
41	chr7:140069400-140079200	Weak transcription	Brain Germinal Matrix	brain
42	chr7:140069600-140091800	Weak transcription	Esophagus	oesophagus
43	chr7:140070400-140077800	Weak transcription	HSMM	muscle
44	chr7:140072000-140082400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:140072400-140079600	Weak transcription	NHEK	skin
46	chr7:140074000-140082200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:140074000-140082200	Strong transcription	Fetal Stomach	stomach
48	chr7:140074200-140082400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:140074600-140078600	Weak transcription	Lung	lung
50	chr7:140074800-140082400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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