Variant report

Variant	rs17496150
Chromosome Location	chr7:39992022-39992023
allele	C/G
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	CTCF	chr7:39990646-39992317	A549	lung:	n/a	chr7:39992206-39992213
2	MYC	chr7:39992020-39992414	MCF10A-Er-Src	breast:	n/a	n/a
3	SMC3	chr7:39987729-39992298	SK-N-SH	brain:	n/a	chr7:39989125-39989135
4	POLR2A	chr7:39990966-39993370	MCF10A-Er-Src	breast:	n/a	n/a
5	BRCA1	chr7:39991212-39992274	Hela-S3	cervix:	n/a	n/a
6	FOS	chr7:39991985-39992315	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr7:39988042-39992281	IMR90	lung:	n/a	n/a
8	FOS	chr7:39992005-39992322	MCF10A-Er-Src	breast:	n/a	n/a
9	RUNX3	chr7:39991922-39992300	GM12878	blood:	n/a	n/a
10	CEBPB	chr7:39991082-39993478	Hela-S3	cervix:	n/a	chr7:39992576-39992587 chr7:39992576-39992589 chr7:39992971-39992982
11	CHD1	chr7:39988142-39993006	IMR90	lung:	n/a	chr7:39989417-39989427
12	UBTF	chr7:39988537-39992023	K562	blood:	n/a	n/a
13	MYC	chr7:39991756-39992555	MCF10A-Er-Src	breast:	n/a	n/a
14	TBP	chr7:39991303-39992855	Hela-S3	cervix:	n/a	n/a
15	CHD1	chr7:39988238-39992105	GM12878	blood:	n/a	chr7:39989417-39989427
16	STAT3	chr7:39991689-39992222	MCF10A-Er-Src	breast:	n/a	n/a
17	EP300	chr7:39991927-39992998	Hela-S3	cervix:	n/a	n/a
18	HCFC1	chr7:39987813-39992368	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr7:39987858-39993456	GM12878	blood:	n/a	n/a
20	MXI1	chr7:39991149-39992289	GM12878	blood:	n/a	n/a
21	MXI1	chr7:39988539-39992318	IMR90	lung:	n/a	n/a
22	MXI1	chr7:39987517-39993787	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr7:39990853-39992343	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr7:39991938-39992378	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39989010..39992398-chr7:40024722..40029040,5	MCF-7	breast:
2	chr7:39991743..39994324-chr7:40009939..40012634,2	K562	blood:

Variant related genes	Relation type
ENSG00000259826	TF binding region
ENSG00000065883	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17496198	1.00[AFR][1000 genomes]
rs17496415	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 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	chr7:39987800-39992800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr7:39987800-39993200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:39987800-39993400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:39988000-39992200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:39988000-39992400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr7:39988000-39992800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:39988000-39993000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:39988000-39993200	Active TSS	HSMM	muscle
9	chr7:39988000-39993400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:39988000-39993400	Active TSS	Osteobl	bone
11	chr7:39988000-39993600	Active TSS	Colonic Mucosa	Colon
12	chr7:39988000-39993800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr7:39988000-39993800	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:39988000-39994000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr7:39988200-39992200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:39988200-39992800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:39988200-39993200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:39988200-39993200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr7:39988200-39993200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:39988200-39993200	Active TSS	Muscle Satellite Cultured Cells	--
21	chr7:39988200-39993200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:39988200-39993200	Active TSS	Colon Smooth Muscle	Colon
23	chr7:39988200-39993200	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr7:39988200-39993200	Active TSS	A549	lung
25	chr7:39988200-39993200	Active TSS	K562	blood
26	chr7:39988200-39993200	Active TSS	NH-A	brain
27	chr7:39988200-39993200	Active TSS	NHDF-Ad	bronchial
28	chr7:39988200-39993400	Active TSS	Aorta	Aorta
29	chr7:39988200-39993400	Active TSS	Psoas Muscle	Psoas
30	chr7:39988200-39993400	Active TSS	Right Ventricle	heart
31	chr7:39988200-39993600	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr7:39988200-39993800	Active TSS	H1 Cell Line	embryonic stem cell
33	chr7:39988200-39996200	Active TSS	GM12878-XiMat	blood
34	chr7:39988400-39992200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr7:39988400-39992400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:39988400-39992400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:39988400-39992400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:39988400-39992400	Active TSS	Placenta Amnion	Placenta Amnion
39	chr7:39988400-39992400	Active TSS	HUVEC	blood vessel
40	chr7:39988400-39992600	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr7:39988400-39992600	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr7:39988400-39992600	Active TSS	Brain Anterior Caudate	brain
43	chr7:39988400-39992600	Active TSS	Brain Cingulate Gyrus	brain
44	chr7:39988400-39992600	Active TSS	Fetal Lung	lung
45	chr7:39988400-39992600	Active TSS	Placenta	Placenta
46	chr7:39988400-39992800	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr7:39988400-39992800	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr7:39988400-39993000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:39988400-39993000	Active TSS	Fetal Stomach	stomach
50	chr7:39988400-39993000	Active TSS	Fetal Thymus	thymus

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