Variant report

Variant	rs552675306
Chromosome Location	chr2:148781655-148781656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr2:148781516-148781849	GM12878	blood:	n/a	n/a
2	EBF1	chr2:148781472-148781788	GM12878	blood:	n/a	n/a
3	SPI1	chr2:148781502-148781734	GM12891	blood:	n/a	n/a
4	POLR2A	chr2:148781402-148781707	GM12891	blood:	n/a	n/a
5	CTCF	chr2:148781634-148781747	GM12878	blood:	n/a	n/a
6	SPI1	chr2:148781479-148781721	GM12891	blood:	n/a	n/a
7	RUNX3	chr2:148781412-148781851	GM12878	blood:	n/a	n/a
8	SPI1	chr2:148781469-148781738	GM12878	blood:	n/a	n/a
9	WRNIP1	chr2:148781439-148781680	GM12878	blood:	n/a	n/a
10	NFIC	chr2:148781389-148781902	GM12878	blood:	n/a	n/a
11	ZNF143	chr2:148781551-148781767	GM12878	blood:	n/a	n/a
12	ZNF384	chr2:148781503-148781661	K562	blood:	n/a	n/a
13	MXI1	chr2:148781440-148781819	GM12878	blood:	n/a	n/a
14	TAF1	chr2:148781492-148781704	GM12891	blood:	n/a	n/a
15	POLR2A	chr2:148781634-148782106	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148776962..148779896-chr2:148780492..148782888,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBD5-1	chr2:148781621-148781743	NONHSAT074877

No data

Variant related genes	Relation type
ORC4	TF binding region
ENSG00000115947	Chromatin interaction
ENSG00000204406	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1009602	chr2:148668195-148844240	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv535967	chr2:148668195-148844240	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1002358	chr2:148703807-148942372	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1004169	chr2:148705700-148811850	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv535970	chr2:148705700-148811850	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1007683	chr2:148717347-148942372	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv535971	chr2:148717347-148942372	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv869326	chr2:148727068-148859804	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv817366	chr2:148727068-148879681	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1000852	chr2:148730825-148934986	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv535972	chr2:148730825-148934986	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1009807	chr2:148731025-148829378	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv535973	chr2:148731025-148829378	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv1009696	chr2:148739650-148805668	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv535974	chr2:148739650-148805668	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1011381	chr2:148739850-148805529	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv535975	chr2:148739850-148805529	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv999777	chr2:148740742-148809464	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv916766	chr2:148743880-148955720	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv1015003	chr2:148745734-148839653	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	nsv1005805	chr2:148755022-148842566	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv535976	chr2:148755022-148842566	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
26	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
27	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
28	nsv1014570	chr2:148780080-148869729	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv535978	chr2:148780080-148869729	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148774800-148782400	Active TSS	GM12878-XiMat	blood
2	chr2:148777600-148782200	Active TSS	Stomach Smooth Muscle	stomach
3	chr2:148779600-148782000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:148779600-148782200	Flanking Active TSS	Dnd41	blood
5	chr2:148779600-148786000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:148779600-148844600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:148779800-148782000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:148779800-148784400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:148779800-148788200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:148779800-148801600	Weak transcription	Aorta	Aorta
11	chr2:148779800-148803000	Weak transcription	Lung	lung
12	chr2:148779800-148811600	Weak transcription	Placenta	Placenta
13	chr2:148779800-148814800	Weak transcription	Small Intestine	intestine
14	chr2:148779800-148825600	Weak transcription	Left Ventricle	heart
15	chr2:148780000-148782000	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:148780000-148782800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr2:148780000-148782800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr2:148780000-148784000	Weak transcription	Psoas Muscle	Psoas
19	chr2:148780000-148784000	Weak transcription	Right Ventricle	heart
20	chr2:148780200-148781800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:148780200-148781800	Enhancers	Primary B cells from cord blood	blood
22	chr2:148780200-148781800	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:148780200-148781800	Enhancers	Hela-S3	cervix
24	chr2:148780200-148782400	Enhancers	Liver	Liver
25	chr2:148780200-148783000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr2:148780200-148784000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:148780200-148784000	Weak transcription	Right Atrium	heart
28	chr2:148780200-148784200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:148780200-148785600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:148780200-148789800	Weak transcription	Brain Angular Gyrus	brain
31	chr2:148780200-148806600	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:148780400-148781800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:148780400-148781800	Enhancers	Fetal Intestine Small	intestine
34	chr2:148780400-148782000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:148780400-148782600	Enhancers	Rectal Smooth Muscle	rectum
36	chr2:148780400-148782800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:148780400-148783600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr2:148780400-148788800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:148780400-148798800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:148780400-148806000	Weak transcription	HSMM	muscle
41	chr2:148780400-148809800	Weak transcription	Fetal Stomach	stomach
42	chr2:148780600-148781800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:148780600-148781800	Enhancers	Fetal Thymus	thymus
44	chr2:148780600-148781800	Enhancers	NHEK	skin
45	chr2:148780600-148782000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr2:148780600-148782200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:148780600-148782200	Enhancers	Fetal Lung	lung
48	chr2:148780600-148782400	Enhancers	Fetal Brain Male	brain
49	chr2:148780600-148782800	Enhancers	HepG2	liver
50	chr2:148780600-148792200	Weak transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links