Variant report

Variant	rs547783382
Chromosome Location	chr2:173291724-173291725
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	USF1	chr2:173291717-173292118	H1-hESC	embryonic stem cell:	n/a	n/a
2	CREB1	chr2:173291720-173293971	HepG2	liver:	n/a	n/a
3	E2F6	chr2:173291703-173292475	H1-hESC	embryonic stem cell:	n/a	chr2:173292261-173292271 chr2:173292349-173292358
4	POLR2A	chr2:173291466-173293613	Raji	blood:	n/a	n/a
5	E2F6	chr2:173291606-173292807	H1-hESC	embryonic stem cell:	n/a	chr2:173292770-173292782 chr2:173292261-173292271 chr2:173292729-173292739 chr2:173292759-173292773 chr2:173292756-173292770 chr2:173292349-173292358
6	MAX	chr2:173291649-173293591	A549	lung:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972 chr2:173291677-173291688
7	ATF2	chr2:173291667-173292184	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr2:173291621-173293660	HCT-116	colon:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972 chr2:173291677-173291688
9	CTCF	chr2:173291720-173291870	AG04450	lung:	n/a	n/a
10	MAX	chr2:173291640-173293860	HepG2	liver:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972 chr2:173291677-173291688
11	RCOR1	chr2:173291709-173293800	HepG2	liver:	n/a	n/a
12	TCF12	chr2:173291704-173292410	A549	lung:	n/a	n/a
13	BHLHE40	chr2:173291690-173293224	HepG2	liver:	n/a	chr2:173292390-173292406 chr2:173292470-173292486
14	SIN3AK20	chr2:173291665-173292693	HCT-116	colon:	n/a	n/a
15	MAX	chr2:173291687-173293603	H1-hESC	embryonic stem cell:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
16	MAX	chr2:173291663-173293534	A549	lung:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972 chr2:173291677-173291688
17	MYBL2	chr2:173291668-173294278	HepG2	liver:	n/a	n/a
18	MAX	chr2:173291405-173293750	HCT-116	colon:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972 chr2:173291677-173291688
19	SIN3AK20	chr2:173291666-173293813	HCT-116	colon:	n/a	n/a
20	MAX	chr2:173291674-173293351	ECC-1	luminal epithelium:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972 chr2:173291677-173291688
21	MAX	chr2:173291682-173292602	ECC-1	luminal epithelium:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173290254..173291940-chr2:173293674..173296240,2	MCF-7	breast:

Variant related genes	Relation type
ITGA6	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv875414	chr2:173267081-173307756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1847874	chr2:173277361-173308318	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583663	chr2:173287832-173307756	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv583664	chr2:173289239-173307756	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3322868	chr2:173291131-173293679	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173285200-173291800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:173285200-173291800	Enhancers	Fetal Thymus	thymus
3	chr2:173288400-173291800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:173290200-173291800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:173290200-173291800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:173290200-173292000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
7	chr2:173290400-173291800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:173290600-173291800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:173290600-173291800	Weak transcription	Psoas Muscle	Psoas
10	chr2:173290800-173291800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:173290800-173291800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr2:173290800-173291800	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr2:173291000-173291800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:173291200-173292200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:173291400-173291800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr2:173291400-173291800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr2:173291400-173291800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:173291400-173291800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:173291400-173291800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:173291400-173291800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:173291400-173291800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:173291400-173291800	Enhancers	Fetal Intestine Small	intestine
23	chr2:173291400-173291800	Enhancers	Pancreas	Pancrea
24	chr2:173291400-173291800	Enhancers	Stomach Mucosa	stomach
25	chr2:173291400-173291800	Enhancers	HMEC	breast
26	chr2:173291400-173292000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr2:173291400-173292000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr2:173291400-173292000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr2:173291400-173292000	Bivalent Enhancer	Placenta	Placenta
30	chr2:173291400-173292000	Enhancers	Spleen	Spleen
31	chr2:173291400-173292200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr2:173291400-173292200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr2:173291600-173291800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:173291600-173291800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr2:173291600-173291800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:173291600-173291800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr2:173291600-173291800	Enhancers	Primary hematopoietic stem cells	blood
38	chr2:173291600-173291800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:173291600-173291800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:173291600-173291800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:173291600-173291800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:173291600-173291800	Enhancers	Adipose Nuclei	Adipose
43	chr2:173291600-173291800	Enhancers	Liver	Liver
44	chr2:173291600-173291800	Enhancers	Brain Anterior Caudate	brain
45	chr2:173291600-173291800	Enhancers	Brain Cingulate Gyrus	brain
46	chr2:173291600-173291800	Enhancers	Brain Hippocampus Middle	brain
47	chr2:173291600-173291800	Active TSS	Colonic Mucosa	Colon
48	chr2:173291600-173291800	Bivalent Enhancer	Colon Smooth Muscle	Colon
49	chr2:173291600-173291800	Bivalent Enhancer	Esophagus	oesophagus
50	chr2:173291600-173291800	Enhancers	Fetal Heart	heart

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