Variant report

Variant	rs193036746
Chromosome Location	chr7:8007955-8007956
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	RCOR1	chr7:8007945-8008159	K562	blood:	n/a	n/a
2	EP300	chr7:8007883-8009275	SK-N-SH	brain:	n/a	chr7:8008364-8008380 chr7:8008690-8008699 chr7:8008398-8008414 chr7:8008951-8008960 chr7:8008794-8008810 chr7:8008371-8008387
3	WRNIP1	chr7:8007866-8008339	GM12878	blood:	n/a	n/a
4	NFIC	chr7:8007776-8008815	GM12878	blood:	n/a	n/a
5	MAX	chr7:8007796-8009064	MCF-7	breast:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
6	MYC	chr7:8007511-8009987	K562	blood:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
7	BATF	chr7:8007882-8008300	GM12878	blood:	n/a	n/a
8	MXI1	chr7:8007930-8009013	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:8007951-8009119	PANC-1	pancreas:	n/a	n/a
10	E2F6	chr7:8007942-8009116	A549	lung:	n/a	chr7:8008689-8008699 chr7:8008925-8008937 chr7:8008805-8008814 chr7:8008935-8008944 chr7:8008400-8008409
11	E2F6	chr7:8007919-8009813	K562	blood:	n/a	chr7:8008689-8008699 chr7:8008925-8008937 chr7:8008805-8008814 chr7:8008935-8008944 chr7:8009344-8009356 chr7:8008400-8008409
12	TCF12	chr7:8007931-8008464	GM12878	blood:	n/a	n/a
13	CTCF	chr7:8007820-8007970	BJ	skin:	n/a	n/a
14	ZBTB7A	chr7:8007906-8009044	ECC-1	luminal epithelium:	n/a	n/a
15	PML	chr7:8007869-8008650	GM12878	blood:	n/a	n/a
16	PML	chr7:8007919-8009237	MCF-7	breast:	n/a	n/a
17	ZNF384	chr7:8007712-8008236	GM12878	blood:	n/a	n/a
18	MYC	chr7:8007634-8008866	MCF10A-Er-Src	breast:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
19	MTA3	chr7:8006906-8010045	GM12878	blood:	n/a	n/a
20	NFATC1	chr7:8007757-8009173	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:8007164-8012302	GM12878	blood:	n/a	n/a
22	NFYA	chr7:8007728-8008553	Hela-S3	cervix:	n/a	chr7:8008306-8008316
23	RCOR1	chr7:8007924-8009080	Hela-S3	cervix:	n/a	n/a
24	STAT5A	chr7:8007563-8008160	GM12878	blood:	n/a	n/a
25	EP300	chr7:8007832-8009094	GM12878	blood:	n/a	chr7:8008364-8008380 chr7:8008690-8008699 chr7:8008398-8008414 chr7:8008951-8008960 chr7:8008794-8008810 chr7:8008371-8008387
26	MAZ	chr7:8007935-8008925	HepG2	liver:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
27	SIN3A	chr7:8007872-8010871	H1-hESC	embryonic stem cell:	n/a	chr7:8008206-8008219 chr7:8008208-8008219
28	MAX	chr7:8007829-8010023	NB4	blood:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
29	TCF12	chr7:8007889-8009098	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:8007896-8009844	K562	blood:	n/a	n/a
31	SMC3	chr7:8007509-8008245	GM12878	blood:	n/a	n/a
32	CTCF	chr7:8007860-8008010	HAc	cerebellar:	n/a	n/a
33	TBL1XR1	chr7:8007520-8009091	GM12878	blood:	n/a	n/a
34	PBX3	chr7:8007863-8009028	SK-N-SH	brain:	n/a	n/a
35	HEY1	chr7:8007919-8009318	K562	blood:	n/a	chr7:8008921-8008936 chr7:8008745-8008760
36	MAX	chr7:8007873-8009143	ECC-1	luminal epithelium:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
37	MXI1	chr7:8006814-8014285	SK-N-SH	brain:	n/a	n/a
38	BRCA1	chr7:8007704-8008821	GM12878	blood:	n/a	n/a
39	MAZ	chr7:8007718-8010413	IMR90	lung:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
40	POLR2A	chr7:8007125-8009991	GM12892	blood:	n/a	n/a
41	SIN3AK20	chr7:8007842-8009103	MCF-7	breast:	n/a	n/a
42	POLR2A	chr7:8007917-8010020	HL-60	blood:	n/a	n/a
43	YY1	chr7:8007945-8009096	GM12891	blood:	n/a	chr7:8008688-8008697 chr7:8008805-8008814 chr7:8008806-8008817 chr7:8008688-8008702 chr7:8008691-8008705 chr7:8008400-8008409 chr7:8008411-8008422
44	TCF7L2	chr7:8007932-8009173	Hela-S3	cervix:	n/a	n/a
45	MAFK	chr7:8007843-8008222	K562	blood:	n/a	n/a
46	ZNF143	chr7:8007719-8009023	K562	blood:	n/a	n/a
47	POLR2A	chr7:8007054-8009953	GM19193	blood:	n/a	n/a
48	MAX	chr7:8007862-8009111	GM12878	blood:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
49	POLR2A	chr7:8006896-8012163	GM12891	blood:	n/a	n/a
50	CHD1	chr7:8007292-8013431	GM12878	blood:	n/a	chr7:8008401-8008411 chr7:8008924-8008934 chr7:8008931-8008941 chr7:8008787-8008797

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:8007940-8007990	HRE	kidney:	n/a
2	chr7:8007940-8007990	GM12878	blood:	n/a
3	chr7:8007940-8007990	Hepatocyte	liver:	n/a
4	chr7:8007940-8007990	HCT-116	colon:	n/a
5	chr7:8007940-8007990	GM12891	blood:	n/a
6	chr7:8007940-8007990	HCM	heart:	n/a
7	chr7:8007940-8007990	HCF	heart:	n/a
8	chr7:8007940-8007990	ProgFib	skin:	n/a
9	chr7:8007940-8007990	SK-N-MC	brain:	n/a
10	chr7:8007940-8007990	PrEC	prostate:	n/a
11	chr7:8007940-8007990	HIPEpiC	eye:	n/a
12	chr7:8007940-8007990	AoSMC	blood vessel:	n/a
13	chr7:8007940-8007990	HRCEpiC	kidney:	n/a
14	chr7:8007940-8007990	Jurkat	blood:	n/a
15	chr7:8007940-8007990	H1-hESC	embryonic stem cell:	embryo
16	chr7:8007940-8007990	BJ	skin:	n/a
17	chr7:8007940-8007990	PFSK-1	brain:	n/a
18	chr7:8007940-8007990	AG04450	lung:	fetal
19	chr7:8007940-8007990	SAEC	small airway:	n/a
20	chr7:8007940-8007990	Hela-S3	cervix:	n/a
21	chr7:8007940-8007990	AG09309	skin:	n/a
22	chr7:8007940-8007990	HAEpiC	amniotic membrane:	n/a
23	chr7:8007940-8007990	U87	brain:	n/a
24	chr7:8007940-8007990	AG09319	gingival:	n/a
25	chr7:8007940-8007990	ECC-1	luminal epithelium:	n/a
26	chr7:8007940-8007990	HEEpiC	esophagus:	n/a
27	chr7:8007940-8007990	HNPCEpiC	eye:	n/a
28	chr7:8007940-8007990	BE2_C	brain:	n/a
29	chr7:8007940-8007990	MCF-7	breast:	n/a
30	chr7:8007940-8007990	SKMC	muscle:	n/a
31	chr7:8007940-8007990	GM19239	blood:	n/a
32	chr7:8007940-8007990	GM06990	blood:	n/a
33	chr7:8007940-8007990	NH-A	brain:	n/a
34	chr7:8007940-8007990	NHBE	bronchial:	n/a
35	chr7:8007940-8007990	HEK293	kidney:	embryo
36	chr7:8007940-8007990	HL-60	blood:	n/a
37	chr7:8007940-8007990	CMK	blood:	n/a
38	chr7:8007940-8007990	HepG2	liver:	n/a
39	chr7:8007940-8007990	RPTEC	kidney:	n/a
40	chr7:8007940-8007990	HMEC	breast:	n/a
41	chr7:8007940-8007990	HCPEpiC	choroid plexus:	n/a
42	chr7:8007940-8007990	SK-N-SH	brain:	n/a
43	chr7:8007940-8007990	AG04449	skin:	fetal
44	chr7:8007940-8007990	GM12892	blood:	n/a
45	chr7:8007940-8007990	NB4	blood:	n/a
46	chr7:8007940-8007990	NHDF-neo	bronchial:	n/a
47	chr7:8007940-8007990	LNCaP	prostate:	n/a
48	chr7:8007940-8007990	Caco-2	colon:	n/a
49	chr7:8007940-8007990	SK-N-SH_RA	brain:	n/a
50	chr7:8007940-8007990	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:7947370..7958537-chr7:8006160..8010935,22	MCF-7	breast:
2	chr7:8006099..8007957-chr7:8009237..8011123,2	K562	blood:
3	chr7:8006167..8007991-chr7:8049393..8051817,2	MCF-7	breast:
4	chr7:7809766..7812689-chr7:8007861..8010451,3	MCF-7	breast:
5	chr2:136287637..136288332-chr7:8007939..8008657,2	Hela-S3	cervix:
6	chr7:8006834..8014864-chr7:8015250..8023851,23	K562	blood:
7	chr7:8007277..8011687-chr7:8017849..8023164,7	MCF-7	breast:
8	chr7:8006704..8009086-chr7:8043010..8045321,2	MCF-7	breast:
9	chr2:86850385..86850981-chr7:8007809..8008749,2	NB4	blood:

Variant related genes	Relation type
GLCCI1	TF binding region
GLCCI1	CpG island
ENSG00000214998	Chromatin interaction
ENSG00000233108	Chromatin interaction
ENSG00000106415	Chromatin interaction
ENSG00000121988	Chromatin interaction
ENSG00000219545	Chromatin interaction
ENSG00000233264	Chromatin interaction
ENSG00000239305	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv3336693	chr7:8007427-8010075	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8007000-8008200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:8007000-8008200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:8007000-8010200	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr7:8007200-8008000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr7:8007200-8008000	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr7:8007200-8008000	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr7:8007200-8008000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr7:8007200-8008000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr7:8007200-8008000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr7:8007200-8008000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr7:8007200-8008000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr7:8007200-8008000	Flanking Active TSS	Osteobl	bone
13	chr7:8007200-8008200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:8007200-8009400	Active TSS	Primary monocytes fromperipheralblood	blood
15	chr7:8007200-8010200	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr7:8007200-8010400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:8007200-8010600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:8007200-8010600	Active TSS	Stomach Smooth Muscle	stomach
19	chr7:8007200-8012600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:8007200-8013400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr7:8007400-8008000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr7:8007400-8008000	Flanking Active TSS	Dnd41	blood
23	chr7:8007400-8008000	Flanking Active TSS	NHEK	skin
24	chr7:8007400-8008200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr7:8007400-8008200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr7:8007400-8008200	Flanking Active TSS	HepG2	liver
27	chr7:8007400-8008200	Flanking Active TSS	HUVEC	blood vessel
28	chr7:8007400-8009800	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr7:8007400-8010200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:8007400-8010200	Active TSS	Colon Smooth Muscle	Colon
31	chr7:8007400-8010200	Active TSS	Fetal Lung	lung
32	chr7:8007400-8010200	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr7:8007400-8010200	Active TSS	Stomach Mucosa	stomach
34	chr7:8007400-8010400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr7:8007400-8010400	Active TSS	Fetal Kidney	kidney
36	chr7:8007400-8010400	Active TSS	NHDF-Ad	bronchial
37	chr7:8007400-8010600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr7:8007400-8010600	Active TSS	NHLF	lung
39	chr7:8007400-8010800	Active TSS	Primary T cells fromperipheralblood	blood
40	chr7:8007400-8010800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:8007400-8011800	Active TSS	Fetal Stomach	stomach
42	chr7:8007400-8012200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:8007400-8012200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:8007600-8008000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr7:8007600-8008000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:8007600-8008000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:8007600-8008000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr7:8007600-8008000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr7:8007600-8008000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr7:8007600-8008000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links