Variant report

Variant	rs11694296
Chromosome Location	chr2:97563128-97563129
allele	C/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	TBL1XR1	chr2:97563089-97563614	K562	blood:	n/a	n/a
2	MYC	chr2:97563033-97563542	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr2:97563004-97563859	MCF-7	breast:	n/a	n/a
4	EP300	chr2:97563083-97563615	K562	blood:	n/a	n/a
5	CEBPB	chr2:97563077-97563572	K562	blood:	n/a	n/a
6	RCOR1	chr2:97562831-97563787	K562	blood:	n/a	n/a
7	CEBPB	chr2:97563107-97563553	IMR90	lung:	n/a	n/a
8	RCOR1	chr2:97563064-97563655	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:97481114..97483138-chr2:97559703..97563563,4	MCF-7	breast:
2	chr2:97522291..97526078-chr2:97561305..97564829,3	K562	blood:
3	chr2:97562462..97564886-chr2:97613357..97616382,3	MCF-7	breast:

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

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10169387	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10182668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182965	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677797	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12613171	0.90[ASW][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs13383845	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs13410790	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs13421275	0.88[AMR][1000 genomes]
rs13423092	0.90[ASW][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs13425281	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2314650	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28687044	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4907203	0.90[ASW][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4907204	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4907205	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4907206	0.90[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4907256	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4907257	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4907258	0.90[ASW][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4907259	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4907260	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs61382911	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97554400-97563400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:97554600-97563400	Weak transcription	Fetal Heart	heart
3	chr2:97556400-97565200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:97556600-97566000	Enhancers	Fetal Thymus	thymus
5	chr2:97557800-97563200	Weak transcription	Osteobl	bone
6	chr2:97558200-97572200	Weak transcription	Right Atrium	heart
7	chr2:97558600-97566200	Enhancers	Fetal Muscle Leg	muscle
8	chr2:97559600-97565800	Enhancers	HSMM	muscle
9	chr2:97560600-97563400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:97560600-97566600	Enhancers	Placenta	Placenta
11	chr2:97560800-97565400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:97561000-97563400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:97561000-97564200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:97561000-97565200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:97561000-97565400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:97561000-97565800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:97561200-97563800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:97561200-97563800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr2:97561200-97566800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:97561200-97566800	Enhancers	Spleen	Spleen
21	chr2:97561600-97564800	Enhancers	K562	blood
22	chr2:97561600-97565000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:97561600-97572200	Weak transcription	Psoas Muscle	Psoas
24	chr2:97561800-97564400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:97561800-97572000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:97562000-97563200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:97562000-97563400	Weak transcription	Colonic Mucosa	Colon
28	chr2:97562000-97564600	Weak transcription	Right Ventricle	heart
29	chr2:97562000-97572200	Weak transcription	Gastric	stomach
30	chr2:97562200-97563200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:97562200-97564600	Weak transcription	HSMMtube	muscle
32	chr2:97562200-97564800	Weak transcription	Fetal Lung	lung
33	chr2:97562200-97564800	Weak transcription	Stomach Mucosa	stomach
34	chr2:97562200-97565600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:97562200-97569200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:97562400-97563200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:97562400-97563200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:97562400-97563200	Weak transcription	Fetal Intestine Large	intestine
39	chr2:97562400-97564400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:97562400-97564800	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:97562400-97564800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:97562400-97565400	Enhancers	Stomach Smooth Muscle	stomach
43	chr2:97562400-97569200	Weak transcription	Brain Substantia Nigra	brain
44	chr2:97562400-97569200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:97562400-97572000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:97562400-97572000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:97562600-97563600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:97562600-97564400	Weak transcription	Primary T cells from cord blood	blood
49	chr2:97562600-97564800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:97562600-97569200	Weak transcription	Primary hematopoietic stem cells	blood

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