Variant report

Variant	rs17169208
Chromosome Location	chr7:97501558-97501559
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	ATF1	chr7:97501385-97502089	K562	blood:	n/a	n/a
2	TEAD4	chr7:97501465-97501945	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr7:97500925-97502049	K562	blood:	n/a	n/a
4	POLR2A	chr7:97501312-97501868	GM12891	blood:	n/a	n/a
5	NRF1	chr7:97501510-97501969	H1-hESC	embryonic stem cell:	n/a	n/a
6	CREB1	chr7:97501207-97502061	H1-hESC	embryonic stem cell:	n/a	n/a
7	EBF1	chr7:97501426-97501741	GM12878	blood:	n/a	chr7:97501595-97501606
8	POLR2A	chr7:97500930-97502205	PANC-1	pancreas:	n/a	n/a
9	EBF1	chr7:97501351-97501840	GM12878	blood:	n/a	chr7:97501595-97501606
10	MXI1	chr7:97500784-97501973	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr7:97501472-97501994	IMR90	lung:	n/a	n/a
12	POLR2A	chr7:97501202-97502260	SK-N-MC	brain:	n/a	n/a
13	EP300	chr7:97501384-97501683	GM12878	blood:	n/a	chr7:97501620-97501636
14	SIN3AK20	chr7:97501042-97502094	SK-N-SH	brain:	n/a	n/a
15	ZBTB7A	chr7:97501327-97501589	K562	blood:	n/a	n/a
16	POLR2A	chr7:97501431-97501930	A549	lung:	n/a	n/a
17	HCFC1	chr7:97500916-97502198	Hela-S3	cervix:	n/a	n/a
18	EP300	chr7:97501101-97502147	ECC-1	luminal epithelium:	n/a	chr7:97501620-97501636 chr7:97501808-97501824
19	POLR2A	chr7:97501244-97501938	GM12892	blood:	n/a	n/a
20	RFX5	chr7:97501448-97501706	K562	blood:	n/a	n/a
21	USF2	chr7:97501419-97502033	Hela-S3	cervix:	n/a	n/a
22	ATF2	chr7:97501494-97501853	GM12878	blood:	n/a	n/a
23	REST	chr7:97501404-97501912	SK-N-SH	brain:	n/a	chr7:97501410-97501428 chr7:97501591-97501604
24	TAF1	chr7:97501499-97501858	GM12891	blood:	n/a	n/a
25	ATF2	chr7:97501307-97501988	GM12878	blood:	n/a	n/a
26	CEBPB	chr7:97501282-97502047	K562	blood:	n/a	n/a
27	POLR2A	chr7:97501162-97502012	MCF-7	breast:	n/a	n/a
28	ZMIZ1	chr7:97501212-97502110	K562	blood:	n/a	n/a
29	MAX	chr7:97500869-97502084	K562	blood:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
30	MAX	chr7:97500975-97502012	HepG2	liver:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
31	FOXP2	chr7:97501368-97501974	PFSK-1	brain:	n/a	n/a
32	E2F4	chr7:97501332-97502090	MCF10A-Er-Src	breast:	n/a	chr7:97501524-97501534
33	SIN3AK20	chr7:97500986-97501980	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAFK	chr7:97501376-97501878	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr7:97501022-97502055	ECC-1	luminal epithelium:	n/a	n/a
36	ATF2	chr7:97501053-97501801	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr7:97500970-97502097	A549	lung:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
38	SP1	chr7:97501350-97502029	A549	lung:	n/a	chr7:97501839-97501848 chr7:97501815-97501827 chr7:97501816-97501825 chr7:97501816-97501826 chr7:97501489-97501498 chr7:97501489-97501499 chr7:97501816-97501826 chr7:97501488-97501500 chr7:97501817-97501826 chr7:97501817-97501826 chr7:97501490-97501499 chr7:97501488-97501500 chr7:97501815-97501827
39	CHD2	chr7:97501243-97501965	GM12878	blood:	n/a	chr7:97501623-97501633
40	THAP1	chr7:97501477-97501940	K562	blood:	n/a	n/a
41	YY1	chr7:97501445-97501809	A549	lung:	n/a	n/a
42	EBF1	chr7:97501476-97501759	GM12878	blood:	n/a	chr7:97501595-97501606
43	ZNF384	chr7:97501278-97502117	K562	blood:	n/a	n/a
44	MBD4	chr7:97501320-97502003	HepG2	liver:	n/a	n/a
45	SIN3AK20	chr7:97501307-97501816	A549	lung:	n/a	n/a
46	ETS1	chr7:97501120-97501951	K562	blood:	n/a	chr7:97501864-97501875
47	SIN3AK20	chr7:97500906-97501889	K562	blood:	n/a	n/a
48	MYC	chr7:97501380-97501642	GM12878	blood:	n/a	chr7:97501489-97501499
49	POLR2A	chr7:97501377-97502077	HepG2	liver:	n/a	n/a
50	POLR2A	chr7:97500994-97502038	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:97499747..97502097-chr7:97599134..97602634,6	MCF-7	breast:
2	chr7:97499263..97502446-chr7:97599755..97603082,5	K562	blood:
3	chr7:97499971..97501829-chr7:97601279..97602819,2	MCF-7	breast:
4	chr7:97496316..97498581-chr7:97499278..97501918,3	MCF-7	breast:
5	chr7:97501305..97502999-chr7:98028998..98030520,2	K562	blood:
6	chr7:97499263..97501796-chr7:97600194..97603082,4	K562	blood:

Variant related genes	Relation type
ASNS	TF binding region
ENSG00000070669	Chromatin interaction
ENSG00000243554	Chromatin interaction
ENSG00000006453	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11767463	0.84[YRI][hapmap]
rs73396275	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758124	chr7:97476284-97648029	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759546	chr7:97476284-97648029	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv981552	chr7:97500692-97502806	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 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	chr7:97500000-97502200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr7:97500000-97502400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:97500200-97502000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:97500200-97502000	Active TSS	NHEK	skin
5	chr7:97500200-97502200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:97500200-97502200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:97500400-97502000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr7:97500400-97502000	Active TSS	Brain Angular Gyrus	brain
9	chr7:97500400-97502200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:97500400-97502200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:97500400-97502200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr7:97500400-97502200	Active TSS	HSMMtube	muscle
13	chr7:97500400-97502400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr7:97500400-97502400	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr7:97500400-97502400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr7:97500600-97501800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:97500600-97502000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr7:97500600-97502000	Active TSS	Brain Cingulate Gyrus	brain
19	chr7:97500600-97502000	Active TSS	Stomach Smooth Muscle	stomach
20	chr7:97500600-97502000	Active TSS	A549	lung
21	chr7:97500600-97502000	Active TSS	Hela-S3	cervix
22	chr7:97500600-97502000	Active TSS	HSMM	muscle
23	chr7:97500600-97502200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr7:97500600-97502200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:97500600-97502200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:97500600-97502200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:97500600-97502200	Active TSS	NHLF	lung
28	chr7:97500600-97502400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr7:97500600-97502400	Active TSS	Colon Smooth Muscle	Colon
30	chr7:97500800-97501600	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr7:97500800-97501600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr7:97500800-97501600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr7:97500800-97501800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:97500800-97501800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:97500800-97501800	Active TSS	HepG2	liver
36	chr7:97500800-97502000	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:97500800-97502000	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr7:97500800-97502000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:97500800-97502000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:97500800-97502000	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr7:97500800-97502000	Active TSS	K562	blood
42	chr7:97500800-97502200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:97500800-97502200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:97500800-97502200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:97500800-97502200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:97500800-97502200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:97500800-97502200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr7:97500800-97502200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:97500800-97502200	Active TSS	Muscle Satellite Cultured Cells	--
50	chr7:97500800-97502200	Active TSS	Brain Germinal Matrix	brain

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