Variant report

Variant	rs4243786
Chromosome Location	chr2:97563745-97563746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:97563004-97563859	MCF-7	breast:	n/a	n/a
2	MAX	chr2:97563168-97563952	MCF-7	breast:	n/a	n/a
3	RCOR1	chr2:97562831-97563787	K562	blood:	n/a	n/a
4	ZNF217	chr2:97563137-97563938	MCF-7	breast:	n/a	n/a
5	MAX	chr2:97563136-97563963	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:97563733-97563783	HCF	heart:	n/a
2	chr2:97563733-97563783	GM12892	blood:	n/a
3	chr2:97563733-97563783	ECC-1	luminal epithelium:	n/a
4	chr2:97563733-97563783	HEK293	kidney:	embryo
5	chr2:97563733-97563783	HPAEpiC	pulmonary alveolar:	n/a
6	chr2:97563733-97563783	SK-N-SH	brain:	n/a
7	chr2:97563733-97563783	GM19239	blood:	n/a
8	chr2:97563733-97563783	AoSMC	blood vessel:	n/a
9	chr2:97563733-97563783	HAEpiC	amniotic membrane:	n/a
10	chr2:97563733-97563783	SAEC	small airway:	n/a
11	chr2:97563733-97563783	HL-60	blood:	n/a
12	chr2:97563733-97563783	CMK	blood:	n/a
13	chr2:97563733-97563783	LNCaP	prostate:	n/a
14	chr2:97563733-97563783	HUVEC	blood vessel:	n/a
15	chr2:97563733-97563783	Hela-S3	cervix:	n/a
16	chr2:97563733-97563783	HIPEpiC	eye:	n/a
17	chr2:97563733-97563783	AG09319	gingival:	n/a
18	chr2:97563733-97563783	NT2-D1	testis:	n/a
19	chr2:97563733-97563783	BE2_C	brain:	n/a
20	chr2:97563733-97563783	AG04450	lung:	fetal
21	chr2:97563733-97563783	HNPCEpiC	eye:	n/a
22	chr2:97563733-97563783	U87	brain:	n/a
23	chr2:97563733-97563783	HMEC	breast:	n/a
24	chr2:97563733-97563783	SK-N-SH_RA	brain:	n/a
25	chr2:97563733-97563783	H1-hESC	embryonic stem cell:	embryo
26	chr2:97563733-97563783	BJ	skin:	n/a
27	chr2:97563733-97563783	HEEpiC	esophagus:	n/a
28	chr2:97563733-97563783	HCT-116	colon:	n/a
29	chr2:97563733-97563783	Jurkat	blood:	n/a
30	chr2:97563733-97563783	HepG2	liver:	n/a
31	chr2:97563733-97563783	Caco-2	colon:	n/a
32	chr2:97563733-97563783	ovcar-3	ovarian:	n/a
33	chr2:97563733-97563783	PFSK-1	brain:	n/a
34	chr2:97563733-97563783	PrEC	prostate:	n/a
35	chr2:97563733-97563783	NHBE	bronchial:	n/a
36	chr2:97563733-97563783	NB4	blood:	n/a
37	chr2:97563733-97563783	GM12891	blood:	n/a
38	chr2:97563733-97563783	T-47D	breast:	n/a
39	chr2:97563733-97563783	K562	blood:	n/a
40	chr2:97563733-97563783	MCF-7	breast:	n/a
41	chr2:97563733-97563783	PANC-1	pancreas:	n/a
42	chr2:97563733-97563783	A549	lung:	n/a
43	chr2:97563733-97563783	HCM	heart:	n/a
44	chr2:97563733-97563783	GM06990	blood:	n/a
45	chr2:97563733-97563783	AG10803	skin:	n/a
46	chr2:97563733-97563783	HRCEpiC	kidney:	n/a
47	chr2:97563733-97563783	AG04449	skin:	fetal
48	chr2:97563733-97563783	ProgFib	skin:	n/a
49	chr2:97563733-97563783	MCF10A-Er-Src	breast:	n/a
50	chr2:97563733-97563783	NH-A	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97522291..97526078-chr2:97561305..97564829,3	K562	blood:
2	chr2:97481720..97483625-chr2:97563695..97565331,2	MCF-7	breast:
3	chr2:97562462..97564886-chr2:97613357..97616382,3	MCF-7	breast:

No data

Variant related genes	Relation type
FAM178B	TF binding region
FAM178B	CpG island
ENSG00000163126	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000213337	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11902657	0.87[AFR][1000 genomes]
rs12464868	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13430237	1.00[ASW][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2314652	0.89[AMR][1000 genomes]
rs2314653	0.83[ASW][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.95[MKK][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes]
rs4907254	1.00[ASW][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.88[LWK][hapmap];0.94[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs57632006	0.81[EUR][1000 genomes]
rs72942920	0.84[AFR][1000 genomes]
rs7583821	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97556400-97565200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:97556600-97566000	Enhancers	Fetal Thymus	thymus
3	chr2:97558200-97572200	Weak transcription	Right Atrium	heart
4	chr2:97558600-97566200	Enhancers	Fetal Muscle Leg	muscle
5	chr2:97559600-97565800	Enhancers	HSMM	muscle
6	chr2:97560600-97566600	Enhancers	Placenta	Placenta
7	chr2:97560800-97565400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:97561000-97564200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:97561000-97565200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:97561000-97565400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:97561000-97565800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:97561200-97563800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:97561200-97563800	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr2:97561200-97566800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:97561200-97566800	Enhancers	Spleen	Spleen
16	chr2:97561600-97564800	Enhancers	K562	blood
17	chr2:97561600-97565000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:97561600-97572200	Weak transcription	Psoas Muscle	Psoas
19	chr2:97561800-97564400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:97561800-97572000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:97562000-97564600	Weak transcription	Right Ventricle	heart
22	chr2:97562000-97572200	Weak transcription	Gastric	stomach
23	chr2:97562200-97564600	Weak transcription	HSMMtube	muscle
24	chr2:97562200-97564800	Weak transcription	Fetal Lung	lung
25	chr2:97562200-97564800	Weak transcription	Stomach Mucosa	stomach
26	chr2:97562200-97565600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:97562200-97569200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:97562400-97564400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:97562400-97564800	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:97562400-97564800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:97562400-97565400	Enhancers	Stomach Smooth Muscle	stomach
32	chr2:97562400-97569200	Weak transcription	Brain Substantia Nigra	brain
33	chr2:97562400-97569200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:97562400-97572000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:97562400-97572000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:97562600-97564400	Weak transcription	Primary T cells from cord blood	blood
37	chr2:97562600-97564800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr2:97562600-97569200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:97562600-97569200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:97562600-97569200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:97562600-97569600	Weak transcription	Fetal Brain Female	brain
42	chr2:97562800-97564400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:97562800-97565200	Enhancers	HMEC	breast
44	chr2:97563000-97563800	Enhancers	Brain Angular Gyrus	brain
45	chr2:97563000-97564000	Enhancers	NHEK	skin
46	chr2:97563000-97564800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:97563000-97564800	Weak transcription	Thymus	Thymus
48	chr2:97563000-97566000	Enhancers	Lung	lung
49	chr2:97563200-97565200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr2:97563200-97565400	Enhancers	Placenta Amnion	Placenta Amnion

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