Variant report

Variant	rs35733728
Chromosome Location	chr2:95940651-95940652
allele	A/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	HDAC2	chr2:95939841-95940787	MCF-7	breast:	n/a	n/a
2	MAX	chr2:95939874-95940923	MCF-7	breast:	n/a	chr2:95940183-95940193
3	POLR2A	chr2:95940645-95940655	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:95938594..95941150-chr2:95942797..95944870,2	MCF-7	breast:
2	chr2:95940517..95944027-chr2:95960761..95967163,11	MCF-7	breast:

Variant related genes	Relation type
PROM2	TF binding region
ENSG00000115041	Chromatin interaction
ENSG00000155066	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13030506	1.00[AMR][1000 genomes]
rs13031190	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription 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	28 gene(s)	inside rSNPs	diseases
4	nsv1007627	chr2:95878031-95973743	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv535822	chr2:95878031-95973743	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv528011	chr2:95931218-96057011	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1003196	chr2:95935031-95988314	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1010831	chr2:95935648-96074213	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv535824	chr2:95935648-96074213	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv482871	chr2:95936531-96036880	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1010345	chr2:95939355-95988314	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95924000-95941200	Weak transcription	Right Ventricle	heart
2	chr2:95924400-95941400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:95925600-95953800	Weak transcription	Right Atrium	heart
4	chr2:95926800-95953600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:95930000-95956200	Weak transcription	Fetal Brain Female	brain
6	chr2:95931200-95945800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:95931400-95961000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:95931400-95961600	Weak transcription	Brain Substantia Nigra	brain
9	chr2:95932400-95961600	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:95934600-95943400	Weak transcription	Spleen	Spleen
11	chr2:95937600-95944600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:95938200-95947800	Weak transcription	Brain Germinal Matrix	brain
13	chr2:95938800-95942200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:95938800-95943400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:95939200-95940800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:95939200-95944600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:95939400-95941000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:95939400-95941000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:95939400-95941200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:95939400-95941400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr2:95939600-95940800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:95939600-95940800	Enhancers	Fetal Intestine Large	intestine
23	chr2:95939600-95940800	Enhancers	Fetal Intestine Small	intestine
24	chr2:95939600-95941000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:95939600-95942400	Flanking Active TSS	NHEK	skin
26	chr2:95939600-95943000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:95939600-95943200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:95939600-95943400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr2:95939800-95942000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:95939800-95942400	Flanking Active TSS	HMEC	breast
31	chr2:95940000-95940800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:95940000-95941000	Weak transcription	Fetal Thymus	thymus
33	chr2:95940000-95941800	Active TSS	Colonic Mucosa	Colon
34	chr2:95940000-95942000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:95940200-95941000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr2:95940200-95941000	Flanking Active TSS	Placenta	Placenta
37	chr2:95940200-95941400	Flanking Active TSS	Pancreas	Pancrea
38	chr2:95940200-95941600	Active TSS	Esophagus	oesophagus
39	chr2:95940200-95941600	Active TSS	Fetal Kidney	kidney
40	chr2:95940200-95941600	Active TSS	Gastric	stomach
41	chr2:95940200-95941600	Enhancers	Lung	lung
42	chr2:95940200-95941800	Active TSS	Rectal Smooth Muscle	rectum
43	chr2:95940200-95941800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:95940200-95942200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr2:95940400-95940800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr2:95940400-95941000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:95940400-95941200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:95940400-95941200	Active TSS	Fetal Stomach	stomach
49	chr2:95940400-95941600	Active TSS	Stomach Mucosa	stomach
50	chr2:95940600-95940800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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