Variant report

Variant	rs6958836
Chromosome Location	chr7:102717384-102717385
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	chr7:102717352-102717477	MCF-7	breast:	n/a	n/a
2	CEBPB	chr7:102717173-102717578	K562	blood:	n/a	chr7:102717390-102717401
3	CEBPB	chr7:102717215-102717589	K562	blood:	n/a	chr7:102717390-102717401
4	CEBPB	chr7:102717331-102717473	HepG2	liver:	n/a	chr7:102717390-102717401
5	POLR2A	chr7:102717245-102717687	K562	blood:	n/a	n/a
6	CEBPB	chr7:102717227-102717593	A549	lung:	n/a	chr7:102717390-102717401
7	CEBPB	chr7:102717317-102717565	A549	lung:	n/a	chr7:102717390-102717401
8	HDAC2	chr7:102717295-102717517	K562	blood:	n/a	n/a
9	CEBPB	chr7:102717238-102717566	IMR90	lung:	n/a	chr7:102717390-102717401
10	WRNIP1	chr7:102717335-102717477	GM12878	blood:	n/a	n/a
11	CEBPB	chr7:102717216-102717591	Hela-S3	cervix:	n/a	chr7:102717390-102717401
12	CEBPB	chr7:102717219-102717583	HepG2	liver:	n/a	chr7:102717390-102717401
13	CEBPB	chr7:102717346-102717520	H1-hESC	embryonic stem cell:	n/a	chr7:102717390-102717401
14	CEBPB	chr7:102717304-102717524	K562	blood:	n/a	chr7:102717390-102717401
15	POLR2A	chr7:102717292-102717664	HL-60	blood:	n/a	n/a
16	CEBPB	chr7:102717242-102717588	HepG2	liver:	n/a	chr7:102717390-102717401
17	POLR2A	chr7:102717331-102717458	K562	blood:	n/a	n/a
18	CEBPB	chr7:102717271-102717664	MCF-7	breast:	n/a	chr7:102717390-102717401
19	CEBPB	chr7:102717239-102717672	A549	lung:	n/a	chr7:102717390-102717401
20	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	chr7:102388357..102390801-chr7:102713734..102717426,3	K562	blood:
6	chr7:102713351..102719247-chr7:102725221..102729310,7	MCF-7	breast:
7	chr7:102714022..102717631-chr7:102788669..102792237,6	MCF-7	breast:
8	chr20:53057077..53059223-chr7:102716078..102718486,2	MCF-7	breast:
9	chr7:102714071..102718258-chr7:102757961..102760938,3	K562	blood:

Variant related genes	Relation type
FBXL13	TF binding region
ENSG00000146776	Chromatin interaction
ENSG00000233025	Chromatin interaction
ENSG00000128536	Chromatin interaction
ENSG00000161048	Chromatin interaction
ENSG00000170632	Chromatin interaction
ENSG00000222011	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1061844	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12113318	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154379	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55817310	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56165482	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61110292	1.00[ASN][1000 genomes]
rs6465887	1.00[ASN][1000 genomes]
rs6465889	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465903	0.88[AFR][1000 genomes]
rs67993916	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965463	1.00[ASN][1000 genomes]
rs73175808	0.93[AFR][1000 genomes]
rs73410104	1.00[ASN][1000 genomes]
rs73410128	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777217	1.00[ASN][1000 genomes]
rs7799057	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806025	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806616	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	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	chr7:102716400-102717400	Weak transcription	Gastric	stomach
4	chr7:102716400-102717600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:102716400-102723600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:102716400-102734000	Weak transcription	Esophagus	oesophagus
7	chr7:102716400-102745400	Weak transcription	Spleen	Spleen
8	chr7:102716600-102717400	Enhancers	Fetal Muscle Trunk	muscle
9	chr7:102716600-102717600	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:102716600-102717600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr7:102716600-102717600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:102716600-102717600	Enhancers	Pancreas	Pancrea
13	chr7:102716600-102717600	Enhancers	Psoas Muscle	Psoas
14	chr7:102716600-102717600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr7:102716600-102717600	Enhancers	Small Intestine	intestine
16	chr7:102716600-102717800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:102716600-102717800	Enhancers	Fetal Muscle Leg	muscle
18	chr7:102716600-102718000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:102716600-102718600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:102716600-102721400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:102716600-102723600	Weak transcription	Placenta	Placenta
22	chr7:102716600-102724600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:102716600-102725000	Weak transcription	Left Ventricle	heart
24	chr7:102716600-102725000	Weak transcription	Ovary	ovary
25	chr7:102716600-102725400	Weak transcription	Aorta	Aorta
26	chr7:102716600-102735600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:102716600-102737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:102716600-102746400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:102716600-102746600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:102716600-102746800	Weak transcription	Right Atrium	heart
31	chr7:102716600-102760200	Weak transcription	Lung	lung
32	chr7:102716600-102762200	Weak transcription	Colonic Mucosa	Colon
33	chr7:102716600-102768200	Weak transcription	Right Ventricle	heart
34	chr7:102716800-102717400	Enhancers	Primary hematopoietic stem cells	blood
35	chr7:102716800-102717400	Enhancers	Brain Cingulate Gyrus	brain
36	chr7:102716800-102717400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr7:102716800-102717400	Active TSS	Duodenum Mucosa	Duodenum
38	chr7:102716800-102717400	Weak transcription	HSMM	muscle
39	chr7:102716800-102717600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:102716800-102717600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:102716800-102717600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr7:102716800-102717600	Enhancers	Adipose Nuclei	Adipose
43	chr7:102716800-102717600	Enhancers	Fetal Lung	lung
44	chr7:102716800-102717600	Enhancers	Fetal Thymus	thymus
45	chr7:102716800-102717600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr7:102716800-102717600	Enhancers	NHEK	skin
47	chr7:102716800-102717800	Enhancers	Primary B cells from cord blood	blood
48	chr7:102716800-102717800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:102716800-102718000	Enhancers	Primary T cells fromperipheralblood	blood
50	chr7:102716800-102718000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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