Variant report

Variant	rs13027636
Chromosome Location	chr2:173330665-173330666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:301)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr2:173330163-173330966	HepG2	liver:	n/a	n/a
2	CTCF	chr2:173330580-173330730	GM12865	blood:	n/a	n/a
3	CTCF	chr2:173330526-173330698	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr2:173330580-173330730	SAEC	small airway:	n/a	n/a
5	CTCF	chr2:173330600-173330750	GM12864	blood:	n/a	n/a
6	RAD21	chr2:173330291-173330932	HCT-116	colon:	n/a	n/a
7	CTCF	chr2:173330430-173330797	A549	lung:	n/a	n/a
8	CTCF	chr2:173330560-173330710	GM12873	blood:	n/a	n/a
9	CEBPB	chr2:173330356-173330792	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr2:173330580-173330730	HepG2	liver:	n/a	n/a
11	HDAC2	chr2:173330129-173330725	MCF-7	breast:	n/a	chr2:173330541-173330550
12	NFIC	chr2:173330201-173330800	HepG2	liver:	n/a	n/a
13	CTCF	chr2:173330560-173330710	AG09319	gingival:	n/a	n/a
14	CTCF	chr2:173330511-173330780	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr2:173330187-173330810	NB4	blood:	n/a	chr2:173330503-173330512
16	CTCF	chr2:173330560-173330710	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr2:173330534-173330764	GM13977	blood:	n/a	n/a
18	MAX	chr2:173330082-173330923	HepG2	liver:	n/a	chr2:173330503-173330512
19	CTCF	chr2:173330512-173330777	Lung_OC	lung:	n/a	n/a
20	MAFF	chr2:173330305-173330735	HepG2	liver:	n/a	n/a
21	RCOR1	chr2:173330214-173330788	K562	blood:	n/a	n/a
22	CTCF	chr2:173330540-173330690	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr2:173330600-173330750	GM12868	blood:	n/a	n/a
24	BATF	chr2:173330421-173330730	GM12878	blood:	n/a	n/a
25	CTCF	chr2:173330580-173330730	GM12872	blood:	n/a	n/a
26	CTCF	chr2:173330520-173330670	GM12872	blood:	n/a	n/a
27	CTCF	chr2:173330600-173330750	GM12871	blood:	n/a	n/a
28	CTCF	chr2:173330513-173330739	A549	lung:	n/a	n/a
29	BHLHE40	chr2:173330178-173330784	HepG2	liver:	n/a	n/a
30	MYC	chr2:173330383-173330820	H1-hESC	embryonic stem cell:	n/a	chr2:173330503-173330512
31	CTCF	chr2:173330515-173330773	Pancreas_OC	pancreas:	n/a	n/a
32	MAX	chr2:173330144-173330756	SK-N-SH	brain:	n/a	chr2:173330503-173330512
33	CTCF	chr2:173330600-173330750	GM12873	blood:	n/a	n/a
34	CTCF	chr2:173330426-173330757	ECC-1	luminal epithelium:	n/a	n/a
35	STAT3	chr2:173330522-173330799	MCF10A-Er-Src	breast:	n/a	n/a
36	CTCF	chr2:173330580-173330730	HRE	kidney:	n/a	n/a
37	CTCF	chr2:173330540-173330690	GM06990	blood:	n/a	n/a
38	CTCF	chr2:173330560-173330710	AG04449	skin:	n/a	n/a
39	CTCF	chr2:173330560-173330710	HCFaa	heart:	n/a	n/a
40	RAD21	chr2:173330155-173330869	H1-hESC	embryonic stem cell:	n/a	n/a
41	SMC3	chr2:173330059-173330854	HepG2	liver:	n/a	n/a
42	RAD21	chr2:173330093-173330911	IMR90	lung:	n/a	n/a
43	MAFK	chr2:173330427-173330795	K562	blood:	n/a	n/a
44	E2F6	chr2:173330230-173330851	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr2:173330560-173330710	GM12868	blood:	n/a	n/a
46	CTCF	chr2:173330520-173330777	Kidney_OC	kidney:	n/a	n/a
47	TBP	chr2:173330490-173330757	K562	blood:	n/a	n/a
48	CTCF	chr2:173330560-173330710	HPF	lung:	n/a	n/a
49	CTCF	chr2:173330538-173330751	LNCaP	prostate:	n/a	n/a
50	CTCF	chr2:173330540-173330714	MCF-7	breast:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171785240..171786018-chr2:173330491..173331047,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLX2-3	chr2:173330552-173330750	ENSG00000232788.1

No data

Variant related genes	Relation type
ITGA6	TF binding region
ENSG00000115806	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12995911	1.00[AFR][1000 genomes]
rs34803844	1.00[AFR][1000 genomes]
rs35073987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35182736	1.00[AFR][1000 genomes]
rs71415298	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173321400-173356000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:173326400-173340400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:173327200-173353200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:173327400-173338600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:173327400-173345000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:173327800-173333200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:173327800-173370800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:173328000-173335800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:173328200-173331000	Genic enhancers	HMEC	breast
10	chr2:173328600-173330800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr2:173328600-173331000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:173328800-173330800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:173328800-173330800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr2:173328800-173331200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr2:173328800-173332200	Weak transcription	Spleen	Spleen
16	chr2:173328800-173339000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:173328800-173353400	Weak transcription	Right Ventricle	heart
18	chr2:173329000-173332200	Weak transcription	Pancreas	Pancrea
19	chr2:173329000-173335800	Weak transcription	Gastric	stomach
20	chr2:173329000-173335800	Weak transcription	Lung	lung
21	chr2:173329400-173331000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:173329400-173331200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr2:173329400-173335800	Weak transcription	Left Ventricle	heart
24	chr2:173329400-173344400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:173329800-173371200	Weak transcription	Hela-S3	cervix
26	chr2:173330000-173332200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:173330200-173330800	Enhancers	Primary T cells from cord blood	blood
28	chr2:173330200-173335800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:173330200-173342200	Weak transcription	Brain Substantia Nigra	brain
30	chr2:173330200-173345600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:173330200-173350400	Weak transcription	Primary B cells from cord blood	blood
32	chr2:173330400-173330800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:173330400-173330800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:173330400-173330800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:173330400-173330800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:173330400-173331000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:173330400-173331400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:173330400-173331800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:173330400-173332000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:173330400-173332600	Strong transcription	Fetal Intestine Small	intestine
41	chr2:173330400-173335800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:173330400-173339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:173330400-173360400	Weak transcription	Small Intestine	intestine
44	chr2:173330600-173330800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:173330600-173330800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:173330600-173330800	Enhancers	Colon Smooth Muscle	Colon
47	chr2:173330600-173330800	Weak transcription	HUVEC	blood vessel
48	chr2:173330600-173330800	Enhancers	NHLF	lung
49	chr2:173330600-173331000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:173330600-173331000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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