Variant report

Variant	rs187710732
Chromosome Location	chr1:211589662-211589663
allele	G/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	CTCF	chr1:211589580-211589730	HRE	kidney:	n/a	n/a
2	CTCF	chr1:211589580-211589730	BJ	skin:	n/a	n/a
3	POLR2A	chr1:211589457-211589982	Gliobla	brain:	n/a	n/a
4	RAD21	chr1:211589547-211589912	H1-hESC	embryonic stem cell:	n/a	chr1:211589686-211589700
5	HEY1	chr1:211589558-211589876	K562	blood:	n/a	chr1:211589815-211589830 chr1:211589745-211589760 chr1:211589825-211589840
6	PBX3	chr1:211589589-211589708	GM12878	blood:	n/a	n/a
7	CTCF	chr1:211589660-211589810	GM12870	blood:	n/a	n/a
8	JUND	chr1:211589593-211589794	HepG2	liver:	n/a	n/a
9	CTCF	chr1:211589592-211589852	GM10266	blood:	n/a	chr1:211589803-211589816
10	CTCF	chr1:211589560-211589710	GM06990	blood:	n/a	n/a
11	POLR2A	chr1:211589465-211589888	PANC-1	pancreas:	n/a	n/a
12	CTCF	chr1:211589640-211589790	HCPEpiC	choroid plexus:	n/a	n/a
13	POLR2A	chr1:211589606-211589906	HepG2	liver:	n/a	n/a
14	CTCF	chr1:211589607-211589896	MCF-7	breast:	n/a	chr1:211589803-211589816
15	TAF1	chr1:211589551-211590383	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr1:211589560-211589710	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr1:211589614-211589870	NHEK	skin:	n/a	chr1:211589803-211589816
18	HEY1	chr1:211589577-211589853	K562	blood:	n/a	chr1:211589815-211589830 chr1:211589745-211589760 chr1:211589825-211589840
19	CTCF	chr1:211589585-211589942	GM12892	blood:	n/a	chr1:211589803-211589816
20	POLR2A	chr1:211589591-211589970	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:211589535-211590698	GM12892	blood:	n/a	n/a
22	CTCF	chr1:211589600-211589750	HBMEC	blood vessel:	n/a	n/a
23	TCF3	chr1:211589549-211589860	GM12878	blood:	n/a	n/a
24	POLR2A	chr1:211589592-211590002	GM12878	blood:	n/a	n/a
25	TAF1	chr1:211589561-211590333	HepG2	liver:	n/a	n/a
26	TCF12	chr1:211589570-211589803	GM12878	blood:	n/a	n/a
27	CTCF	chr1:211589619-211589842	Gliobla	brain:	n/a	chr1:211589803-211589816
28	CTCF	chr1:211589595-211589923	ProgFib	skin:	n/a	chr1:211589803-211589816
29	CTCF	chr1:211589600-211589750	BE2_C	brain:	n/a	n/a
30	TBP	chr1:211589619-211590367	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr1:211589656-211589854	Pancreas_OC	pancreas:	n/a	chr1:211589803-211589816
32	POLR2A	chr1:211589563-211589845	U87	brain:	n/a	n/a
33	CTCF	chr1:211589608-211589909	MCF-7	breast:	n/a	chr1:211589803-211589816
34	CTCF	chr1:211589657-211589754	K562	blood:	n/a	n/a
35	CTCF	chr1:211589545-211589848	HepG2	liver:	n/a	chr1:211589803-211589816
36	CTCF	chr1:211589660-211589810	HCM	heart:	n/a	n/a
37	POLR2A	chr1:211589560-211589873	GM12892	blood:	n/a	n/a
38	CTCF	chr1:211589617-211589887	Spleen_OC	spleen:	n/a	chr1:211589803-211589816
39	YY1	chr1:211589607-211590409	HepG2	liver:	n/a	chr1:211590286-211590295
40	POLR2A	chr1:211589574-211589857	GM12891	blood:	n/a	n/a
41	POLR2A	chr1:211589431-211590586	ProgFib	skin:	n/a	n/a
42	POLR2A	chr1:211589552-211589733	GM12891	blood:	n/a	n/a
43	HA-E2F1	chr1:211589507-211590489	MCF-7	breast:	n/a	chr1:211590286-211590295 chr1:211589820-211589829
44	RAD21	chr1:211589558-211589885	SK-N-SH_RA	brain:	n/a	chr1:211589686-211589700
45	CTCF	chr1:211589592-211589909	A549	lung:	n/a	chr1:211589803-211589816
46	CTCF	chr1:211589620-211589770	HepG2	liver:	n/a	n/a
47	MAZ	chr1:211589501-211590470	IMR90	lung:	n/a	chr1:211589803-211589813 chr1:211590325-211590334
48	ZBTB7A	chr1:211589606-211589767	HepG2	liver:	n/a	n/a
49	JUND	chr1:211589575-211590040	A549	lung:	n/a	n/a
50	POLR2A	chr1:211589575-211590284	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
SNX25P1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	esv1824154	chr1:211565640-211614280	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
3	esv3362349	chr1:211588754-211591702	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv3433824	chr1:211589079-211591127	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211556800-211589800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:211581400-211608200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:211581800-211590600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:211585400-211593200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:211589200-211590200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:211589200-211590400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:211589200-211590400	Enhancers	Primary B cells from cord blood	blood
8	chr1:211589200-211590400	Active TSS	Muscle Satellite Cultured Cells	--
9	chr1:211589200-211590400	Active TSS	Adipose Nuclei	Adipose
10	chr1:211589200-211590400	Active TSS	Duodenum Mucosa	Duodenum
11	chr1:211589200-211590400	Active TSS	NH-A	brain
12	chr1:211589200-211590600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:211589200-211590800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:211589400-211589800	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:211589400-211589800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:211589400-211589800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:211589400-211590000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:211589400-211590200	Active TSS	Brain Angular Gyrus	brain
19	chr1:211589400-211590200	Active TSS	Brain Cingulate Gyrus	brain
20	chr1:211589400-211590200	Active TSS	Fetal Intestine Large	intestine
21	chr1:211589400-211590200	Active TSS	Stomach Smooth Muscle	stomach
22	chr1:211589400-211590200	Active TSS	HMEC	breast
23	chr1:211589400-211590400	Active TSS	H1 Cell Line	embryonic stem cell
24	chr1:211589400-211590400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr1:211589400-211590400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:211589400-211590400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr1:211589400-211590400	Active TSS	Primary T cells from cord blood	blood
28	chr1:211589400-211590400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:211589400-211590400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:211589400-211590400	Active TSS	Brain Anterior Caudate	brain
31	chr1:211589400-211590400	Active TSS	Brain Germinal Matrix	brain
32	chr1:211589400-211590400	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr1:211589400-211590400	Active TSS	Psoas Muscle	Psoas
34	chr1:211589400-211590400	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr1:211589400-211590400	Active TSS	HepG2	liver
36	chr1:211589400-211590400	Active TSS	HSMM	muscle
37	chr1:211589400-211590400	Active TSS	HUVEC	blood vessel
38	chr1:211589400-211590400	Active TSS	NHEK	skin
39	chr1:211589400-211590400	Active TSS	Osteobl	bone
40	chr1:211589400-211590600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:211589400-211590600	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr1:211589400-211590600	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr1:211589400-211590600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:211589400-211590600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr1:211589400-211590600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr1:211589400-211590600	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr1:211589400-211590600	Active TSS	A549	lung
48	chr1:211589400-211590600	Active TSS	NHDF-Ad	bronchial
49	chr1:211589400-211591000	Active TSS	Brain Hippocampus Middle	brain
50	chr1:211589600-211589800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood

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