Variant report

Variant	rs12703794
Chromosome Location	chr7:140067905-140067906
allele	C/T
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	chr7:140067695-140067976	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140066075..140068956-chr7:140069820..140072197,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MKRN1-7	chr7:140065607-140068356	ucscGeneNc_uc003vwb_1

Variant related genes	Relation type
SLC37A3	TF binding region
RNA5SP247	TF binding region
ENSG00000223113	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10235190	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10258709	0.84[ASN][1000 genomes]
rs11763598	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12665885	0.83[ASN][1000 genomes]
rs12669654	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12671831	0.87[ASN][1000 genomes]
rs12673021	0.81[ASN][1000 genomes]
rs12703771	0.83[ASN][1000 genomes]
rs12703772	0.82[ASN][1000 genomes]
rs12703774	0.83[ASN][1000 genomes]
rs12703775	0.83[ASN][1000 genomes]
rs12703777	0.83[ASN][1000 genomes]
rs12703778	0.84[ASN][1000 genomes]
rs12703782	0.84[ASN][1000 genomes]
rs12703783	0.84[ASN][1000 genomes]
rs12703792	0.99[ASN][1000 genomes]
rs12703793	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12703795	1.00[ASN][1000 genomes]
rs12703796	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12703797	0.99[ASN][1000 genomes]
rs12703799	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13232870	0.84[ASN][1000 genomes]
rs13233309	0.84[ASN][1000 genomes]
rs13244256	0.86[ASN][1000 genomes]
rs3924962	0.93[ASN][1000 genomes]
rs4341086	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4368896	0.87[EUR][1000 genomes]
rs4448174	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4587251	0.82[AMR][1000 genomes]
rs4725685	0.84[ASN][1000 genomes]
rs4726780	0.92[ASN][1000 genomes]
rs62490396	0.82[ASN][1000 genomes]
rs62490397	0.88[EUR][1000 genomes]
rs62490398	0.83[EUR][1000 genomes]
rs6464710	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6464713	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6953541	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6953981	0.95[ASN][1000 genomes]
rs6957189	0.81[ASN][1000 genomes]
rs6967815	0.84[ASN][1000 genomes]
rs6970664	0.88[EUR][1000 genomes]
rs6976805	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7777207	0.87[ASN][1000 genomes]
rs7778099	0.96[ASN][1000 genomes]
rs7786963	0.88[EUR][1000 genomes]
rs7792038	0.88[ASN][1000 genomes]
rs7796411	0.88[EUR][1000 genomes]
rs7803606	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9691058	0.88[ASN][1000 genomes]
rs9692001	0.87[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:123 , 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	chr7:140035000-140074200	Weak transcription	Right Atrium	heart
4	chr7:140042000-140084800	Weak transcription	Hela-S3	cervix
5	chr7:140046000-140076200	Weak transcription	Right Ventricle	heart
6	chr7:140047600-140084200	Weak transcription	Fetal Brain Male	brain
7	chr7:140049200-140090200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:140049600-140076000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:140049600-140078000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:140049600-140078600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:140049600-140079400	Weak transcription	Brain Substantia Nigra	brain
12	chr7:140050200-140079200	Weak transcription	HUVEC	blood vessel
13	chr7:140051400-140068400	Weak transcription	HSMM	muscle
14	chr7:140051600-140076400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:140052000-140097400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:140052600-140075600	Weak transcription	Pancreas	Pancrea
17	chr7:140052800-140079600	Weak transcription	NHDF-Ad	bronchial
18	chr7:140054200-140079800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:140054600-140077800	Weak transcription	Brain Angular Gyrus	brain
20	chr7:140055000-140068600	Weak transcription	Primary B cells from cord blood	blood
21	chr7:140055000-140068600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:140055000-140077800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:140055600-140079200	Weak transcription	Fetal Kidney	kidney
24	chr7:140056800-140077400	Weak transcription	NH-A	brain
25	chr7:140056800-140079400	Weak transcription	Colonic Mucosa	Colon
26	chr7:140057400-140075400	Weak transcription	Osteobl	bone
27	chr7:140058600-140075400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:140058600-140075600	Weak transcription	HepG2	liver
29	chr7:140058600-140077800	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:140058600-140096000	Weak transcription	Small Intestine	intestine
31	chr7:140058800-140075600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:140058800-140075600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:140058800-140075600	Weak transcription	Aorta	Aorta
34	chr7:140058800-140077800	Weak transcription	Placenta	Placenta
35	chr7:140058800-140079200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr7:140058800-140081400	Weak transcription	A549	lung
37	chr7:140058800-140084400	Weak transcription	Gastric	stomach
38	chr7:140058800-140097200	Weak transcription	Brain Anterior Caudate	brain
39	chr7:140059400-140075400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:140059400-140091400	Weak transcription	Fetal Heart	heart
41	chr7:140059600-140075600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:140059600-140075600	Weak transcription	NHLF	lung
43	chr7:140059800-140068400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr7:140060000-140068400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr7:140060000-140075600	Weak transcription	GM12878-XiMat	blood
46	chr7:140060200-140075600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:140060800-140074400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:140061000-140075600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr7:140061000-140076200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:140063400-140069800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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