Variant report

Variant	rs6979140
Chromosome Location	chr7:102717530-102717531
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	CEBPB	chr7:102717173-102717578	K562	blood:	n/a	chr7:102717390-102717401
2	CEBPB	chr7:102717215-102717589	K562	blood:	n/a	chr7:102717390-102717401
3	POLR2A	chr7:102717245-102717687	K562	blood:	n/a	n/a
4	CEBPB	chr7:102717227-102717593	A549	lung:	n/a	chr7:102717390-102717401
5	CEBPB	chr7:102717317-102717565	A549	lung:	n/a	chr7:102717390-102717401
6	CEBPB	chr7:102717238-102717566	IMR90	lung:	n/a	chr7:102717390-102717401
7	CEBPB	chr7:102717216-102717591	Hela-S3	cervix:	n/a	chr7:102717390-102717401
8	CEBPB	chr7:102717219-102717583	HepG2	liver:	n/a	chr7:102717390-102717401
9	POLR2A	chr7:102717292-102717664	HL-60	blood:	n/a	n/a
10	CEBPB	chr7:102717242-102717588	HepG2	liver:	n/a	chr7:102717390-102717401
11	CEBPB	chr7:102717271-102717664	MCF-7	breast:	n/a	chr7:102717390-102717401
12	CEBPB	chr7:102717239-102717672	A549	lung:	n/a	chr7:102717390-102717401
13	RCOR1	chr7:102717351-102717585	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:102714716..102718005-chr7:102734624..102737524,3	MCF-7	breast:
2	chr7:102715242..102717974-chr7:105515259..105517980,2	MCF-7	breast:
3	chr7:102715629..102718160-chr7:102729461..102731149,2	K562	blood:
4	chr7:102714987..102719162-chr7:102758108..102764327,6	K562	blood:
5	chr7:102713351..102719247-chr7:102725221..102729310,7	MCF-7	breast:
6	chr7:102714022..102717631-chr7:102788669..102792237,6	MCF-7	breast:
7	chr20:53057077..53059223-chr7:102716078..102718486,2	MCF-7	breast:
8	chr7:102714071..102718258-chr7:102757961..102760938,3	K562	blood:

Variant related genes	Relation type
FBXL13	TF binding region
ENSG00000170632	Chromatin interaction
ENSG00000128536	Chromatin interaction
ENSG00000233025	Chromatin interaction
ENSG00000146776	Chromatin interaction
ENSG00000161048	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10229137	1.00[EUR][1000 genomes]
rs10230292	1.00[EUR][1000 genomes]
rs10232494	0.85[AMR][1000 genomes]
rs10240086	1.00[EUR][1000 genomes]
rs10260344	1.00[EUR][1000 genomes]
rs10264869	1.00[EUR][1000 genomes]
rs10268112	1.00[EUR][1000 genomes]
rs10268849	1.00[EUR][1000 genomes]
rs10808122	0.91[AMR][1000 genomes]
rs10808123	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10808124	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10808125	1.00[EUR][1000 genomes]
rs10808127	1.00[EUR][1000 genomes]
rs11560367	1.00[EUR][1000 genomes]
rs11760826	1.00[EUR][1000 genomes]
rs11765948	1.00[EUR][1000 genomes]
rs11772979	1.00[EUR][1000 genomes]
rs11773883	1.00[EUR][1000 genomes]
rs11981558	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12155099	1.00[EUR][1000 genomes]
rs12539639	1.00[EUR][1000 genomes]
rs13225565	1.00[EUR][1000 genomes]
rs13226097	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13242079	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13247932	1.00[EUR][1000 genomes]
rs1404213	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1477159	1.00[EUR][1000 genomes]
rs1477161	1.00[EUR][1000 genomes]
rs1477162	1.00[EUR][1000 genomes]
rs1477163	1.00[EUR][1000 genomes]
rs1558853	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1861725	1.00[EUR][1000 genomes]
rs1861726	1.00[EUR][1000 genomes]
rs1861728	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1861730	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1861732	1.00[EUR][1000 genomes]
rs1968198	1.00[EUR][1000 genomes]
rs1968199	1.00[EUR][1000 genomes]
rs1968202	1.00[EUR][1000 genomes]
rs1974715	1.00[EUR][1000 genomes]
rs1974716	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2015289	1.00[EUR][1000 genomes]
rs2041949	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2098447	1.00[EUR][1000 genomes]
rs2111381	1.00[EUR][1000 genomes]
rs2193418	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411079	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411081	1.00[EUR][1000 genomes]
rs2411082	1.00[EUR][1000 genomes]
rs2898640	1.00[EUR][1000 genomes]
rs3181009	1.00[EUR][1000 genomes]
rs4295594	1.00[EUR][1000 genomes]
rs4530973	1.00[EUR][1000 genomes]
rs4727560	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4727561	1.00[EUR][1000 genomes]
rs4729868	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729869	1.00[EUR][1000 genomes]
rs4729870	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729871	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729872	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729874	0.87[AMR][1000 genomes]
rs4729875	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729876	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729878	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729882	1.00[EUR][1000 genomes]
rs4729883	1.00[EUR][1000 genomes]
rs4729884	1.00[EUR][1000 genomes]
rs4729892	1.00[EUR][1000 genomes]
rs56938507	1.00[EUR][1000 genomes]
rs61187383	1.00[EUR][1000 genomes]
rs61676871	1.00[EUR][1000 genomes]
rs62622397	1.00[EUR][1000 genomes]
rs6465891	1.00[EUR][1000 genomes]
rs6465892	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6465898	1.00[EUR][1000 genomes]
rs6465902	1.00[EUR][1000 genomes]
rs6465905	1.00[EUR][1000 genomes]
rs6465907	1.00[EUR][1000 genomes]
rs6465911	1.00[EUR][1000 genomes]
rs6944809	1.00[EUR][1000 genomes]
rs6945578	1.00[EUR][1000 genomes]
rs6946968	1.00[EUR][1000 genomes]
rs6946989	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6947777	1.00[EUR][1000 genomes]
rs6950177	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6955436	1.00[EUR][1000 genomes]
rs6959711	1.00[EUR][1000 genomes]
rs6964822	1.00[EUR][1000 genomes]
rs6966872	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6966961	1.00[EUR][1000 genomes]
rs6968559	1.00[EUR][1000 genomes]
rs6973702	1.00[EUR][1000 genomes]
rs6973787	1.00[EUR][1000 genomes]
rs6976034	1.00[EUR][1000 genomes]
rs6976290	1.00[EUR][1000 genomes]
rs6976794	1.00[EUR][1000 genomes]
rs6977206	1.00[EUR][1000 genomes]
rs6979470	1.00[EUR][1000 genomes]
rs73408205	1.00[EUR][1000 genomes]
rs73408207	1.00[EUR][1000 genomes]
rs73408209	1.00[EUR][1000 genomes]
rs73408210	1.00[EUR][1000 genomes]
rs73408223	1.00[EUR][1000 genomes]
rs73408251	1.00[EUR][1000 genomes]
rs73408254	1.00[EUR][1000 genomes]
rs73408255	1.00[EUR][1000 genomes]
rs73408259	1.00[EUR][1000 genomes]
rs73408285	1.00[EUR][1000 genomes]
rs73408286	1.00[EUR][1000 genomes]
rs73410119	1.00[EUR][1000 genomes]
rs73410129	1.00[EUR][1000 genomes]
rs73410143	1.00[EUR][1000 genomes]
rs7349957	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7350051	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7782147	1.00[EUR][1000 genomes]
rs7783856	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7784337	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7792240	1.00[EUR][1000 genomes]
rs7807900	1.00[EUR][1000 genomes]
rs9640672	1.00[EUR][1000 genomes]
rs9641307	1.00[EUR][1000 genomes]
rs9641308	1.00[EUR][1000 genomes]
rs9691829	1.00[EUR][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	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv526764	chr7:102701826-102737251	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102715000-102717600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:102716000-102717600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr7:102716400-102717600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:102716400-102723600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:102716400-102734000	Weak transcription	Esophagus	oesophagus
6	chr7:102716400-102745400	Weak transcription	Spleen	Spleen
7	chr7:102716600-102717600	Enhancers	Primary B cells from peripheral blood	blood
8	chr7:102716600-102717600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr7:102716600-102717600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:102716600-102717600	Enhancers	Pancreas	Pancrea
11	chr7:102716600-102717600	Enhancers	Psoas Muscle	Psoas
12	chr7:102716600-102717600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr7:102716600-102717600	Enhancers	Small Intestine	intestine
14	chr7:102716600-102717800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:102716600-102717800	Enhancers	Fetal Muscle Leg	muscle
16	chr7:102716600-102718000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:102716600-102718600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr7:102716600-102721400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:102716600-102723600	Weak transcription	Placenta	Placenta
20	chr7:102716600-102724600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:102716600-102725000	Weak transcription	Left Ventricle	heart
22	chr7:102716600-102725000	Weak transcription	Ovary	ovary
23	chr7:102716600-102725400	Weak transcription	Aorta	Aorta
24	chr7:102716600-102735600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:102716600-102737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:102716600-102746400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:102716600-102746600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:102716600-102746800	Weak transcription	Right Atrium	heart
29	chr7:102716600-102760200	Weak transcription	Lung	lung
30	chr7:102716600-102762200	Weak transcription	Colonic Mucosa	Colon
31	chr7:102716600-102768200	Weak transcription	Right Ventricle	heart
32	chr7:102716800-102717600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:102716800-102717600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:102716800-102717600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr7:102716800-102717600	Enhancers	Adipose Nuclei	Adipose
36	chr7:102716800-102717600	Enhancers	Fetal Lung	lung
37	chr7:102716800-102717600	Enhancers	Fetal Thymus	thymus
38	chr7:102716800-102717600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr7:102716800-102717600	Enhancers	NHEK	skin
40	chr7:102716800-102717800	Enhancers	Primary B cells from cord blood	blood
41	chr7:102716800-102717800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:102716800-102718000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr7:102716800-102718000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:102716800-102718000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:102716800-102718000	Enhancers	Liver	Liver
46	chr7:102716800-102718200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr7:102716800-102718600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr7:102716800-102723800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:102716800-102724200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:102716800-102724600	Weak transcription	NHDF-Ad	bronchial

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