Variant report

Variant	rs1866631
Chromosome Location	chr2:174075761-174075762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:174075304-174075765	K562	blood:	n/a	n/a
2	EP300	chr2:174074939-174075815	SK-N-SH	brain:	n/a	n/a
3	SMC3	chr2:174075108-174075821	SK-N-SH	brain:	n/a	n/a
4	FOXA2	chr2:174074924-174075799	A549	lung:	n/a	n/a
5	SP1	chr2:174075117-174075780	A549	lung:	n/a	n/a
6	CTCF	chr2:174075275-174075853	HCT-116	colon:	n/a	n/a
7	RAD21	chr2:174075144-174075808	ECC-1	luminal epithelium:	n/a	n/a
8	RAD21	chr2:174074986-174076222	SK-N-SH	brain:	n/a	n/a
9	RAD21	chr2:174075114-174075854	MCF-7	breast:	n/a	n/a
10	RAD21	chr2:174075264-174075777	ECC-1	luminal epithelium:	n/a	n/a
11	CTCF	chr2:174075217-174075763	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:174075070-174075909	HCT-116	colon:	n/a	n/a
13	SMC3	chr2:174075196-174075810	GM12878	blood:	n/a	n/a
14	RAD21	chr2:174075147-174075774	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:174075151-174075769	K562	blood:	n/a	n/a
16	CTCF	chr2:174075198-174075768	A549	lung:	n/a	n/a
17	MEF2A	chr2:174075165-174075859	SK-N-SH	brain:	n/a	chr2:174075395-174075410
18	RAD21	chr2:174075083-174075879	HCT-116	colon:	n/a	n/a
19	RAD21	chr2:174075029-174075823	A549	lung:	n/a	n/a
20	CTCF	chr2:174075129-174076180	A549	lung:	n/a	n/a
21	FOXA1	chr2:174074990-174075774	HepG2	liver:	n/a	n/a
22	BCL3	chr2:174074996-174075806	A549	lung:	n/a	n/a
23	RFX5	chr2:174075044-174075905	SK-N-SH	brain:	n/a	n/a
24	CTCF	chr2:174075760-174075910	K562	blood:	n/a	n/a
25	MXI1	chr2:174074954-174075858	SK-N-SH	brain:	n/a	n/a
26	FOXA2	chr2:174075007-174075790	A549	lung:	n/a	n/a
27	FOXA2	chr2:174075126-174075967	HepG2	liver:	n/a	n/a
28	RAD21	chr2:174075187-174075769	A549	lung:	n/a	n/a
29	CTCF	chr2:174075105-174075989	SK-N-SH	brain:	n/a	n/a
30	EP300	chr2:174075061-174075772	A549	lung:	n/a	n/a
31	TBL1XR1	chr2:174075256-174075828	K562	blood:	n/a	n/a
32	RAD21	chr2:174075139-174075842	HCT-116	colon:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:173891857..173892922-chr2:174074727..174076041,13	K562	blood:
2	chr2:173911445..173914009-chr2:174074635..174077598,2	K562	blood:
3	chr2:174075523..174078423-chr2:174265356..174267374,2	K562	blood:
4	chr2:173892197..173893051-chr2:174074992..174075912,6	MCF-7	breast:
5	chr2:173841968..173842672-chr2:174075178..174075788,2	MCF-7	breast:
6	chr2:173941095..173943931-chr2:174073550..174075773,3	MCF-7	breast:
7	chr2:173939892..173940418-chr2:174075313..174075854,2	MCF-7	breast:
8	chr2:173891912..173892966-chr2:174075041..174076147,6	MCF-7	breast:
9	chr2:173939918..173942569-chr2:174074502..174077579,3	MCF-7	breast:

No data

Variant related genes	Relation type
MLK7-AS1	TF binding region
ENSG00000091436	Chromatin interaction
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6717067	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
2	chr2:174046400-174075800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
4	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
5	chr2:174049400-174078200	Weak transcription	HUVEC	blood vessel
6	chr2:174049600-174079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:174053400-174078400	Weak transcription	Gastric	stomach
8	chr2:174053400-174082000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
10	chr2:174057400-174075800	Weak transcription	Hela-S3	cervix
11	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
12	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
13	chr2:174061000-174082000	Weak transcription	Fetal Brain Female	brain
14	chr2:174061200-174097600	Weak transcription	Lung	lung
15	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
16	chr2:174061600-174077000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:174061600-174083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:174061600-174083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:174061800-174080200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:174063600-174097600	Weak transcription	HSMM	muscle
21	chr2:174063800-174076200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:174063800-174081600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:174063800-174083200	Weak transcription	GM12878-XiMat	blood
24	chr2:174063800-174095000	Weak transcription	Right Ventricle	heart
25	chr2:174064200-174082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:174064200-174083000	Weak transcription	HepG2	liver
27	chr2:174064200-174083400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:174064200-174097600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:174064600-174082000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:174064600-174083200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:174069400-174076000	Weak transcription	Fetal Intestine Large	intestine
32	chr2:174069400-174081800	Weak transcription	Ovary	ovary
33	chr2:174069400-174082200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:174069400-174097000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:174069400-174097600	Weak transcription	Primary B cells from cord blood	blood
36	chr2:174069600-174096600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:174070000-174081800	Weak transcription	Fetal Brain Male	brain
38	chr2:174071400-174076000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:174071600-174075800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:174071800-174094200	Weak transcription	Fetal Thymus	thymus
41	chr2:174072000-174078600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:174072200-174095400	Weak transcription	Right Atrium	heart
43	chr2:174073000-174078000	Weak transcription	Brain Germinal Matrix	brain
44	chr2:174073600-174076200	Enhancers	Fetal Heart	heart
45	chr2:174073800-174076800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:174074200-174077000	Enhancers	Rectal Smooth Muscle	rectum
47	chr2:174074200-174077400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr2:174074200-174077400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:174074400-174076400	Enhancers	Psoas Muscle	Psoas
50	chr2:174074400-174076400	Strong transcription	Dnd41	blood

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