Variant report

Variant	rs60599690
Chromosome Location	chr2:98277521-98277522
allele	C/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	POLR2A	chr2:98277387-98280171	K562	blood:	n/a	n/a
2	POLR2A	chr2:98274335-98277524	HepG2	liver:	n/a	n/a
3	EGR1	chr2:98277225-98277580	K562	blood:	n/a	chr2:98277414-98277427
4	POLR2A	chr2:98277019-98277829	K562	blood:	n/a	n/a
5	POLR2A	chr2:98277476-98277767	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:98277350-98277683	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:98274036-98277810	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr2:98276168-98277832	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98277235..98279650-chr2:98312622..98314344,2	K562	blood:

Variant related genes	Relation type
ACTR1B	TF binding region
LINC01125	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10460480	1.00[AMR][1000 genomes]
rs17022096	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022495	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028435	1.00[AMR][1000 genomes]
rs17028568	1.00[AMR][1000 genomes]
rs17028640	1.00[AMR][1000 genomes]
rs17031009	1.00[AMR][1000 genomes]
rs2167008	1.00[AMR][1000 genomes]
rs55637939	1.00[AMR][1000 genomes]
rs56045386	1.00[AMR][1000 genomes]
rs56381875	1.00[AMR][1000 genomes]
rs56717024	1.00[AMR][1000 genomes]
rs56894046	1.00[AMR][1000 genomes]
rs57002448	1.00[AMR][1000 genomes]
rs57183691	1.00[AMR][1000 genomes]
rs57875000	1.00[AMR][1000 genomes]
rs58059561	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58753916	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59134572	1.00[AMR][1000 genomes]
rs59340312	1.00[AMR][1000 genomes]
rs60713338	1.00[AMR][1000 genomes]
rs61016336	1.00[AMR][1000 genomes]
rs61085184	0.89[AFR][1000 genomes]
rs72951140	1.00[AMR][1000 genomes]
rs73959761	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73959772	1.00[AMR][1000 genomes]
rs9678135	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv431402	chr2:97669032-98281634	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	esv2763630	chr2:97731133-98279050	Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1005846	chr2:97972600-98281634	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1009263	chr2:98013814-98281634	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv582512	chr2:98272634-98277804	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98265600-98277600	Weak transcription	Small Intestine	intestine
2	chr2:98265600-98277800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:98270400-98278200	Strong transcription	Primary T cells from cord blood	blood
4	chr2:98270400-98278200	Weak transcription	Stomach Mucosa	stomach
5	chr2:98270600-98277600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:98270600-98277800	Strong transcription	Thymus	Thymus
7	chr2:98271000-98278000	Weak transcription	Fetal Brain Male	brain
8	chr2:98271200-98277600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:98271200-98277800	Strong transcription	Colonic Mucosa	Colon
10	chr2:98271200-98278000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:98271400-98278000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:98271400-98278600	Weak transcription	Fetal Kidney	kidney
13	chr2:98271400-98278800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:98271600-98277600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:98271600-98277600	Strong transcription	Brain Germinal Matrix	brain
16	chr2:98271600-98277600	Strong transcription	Fetal Brain Female	brain
17	chr2:98271600-98277800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:98271600-98278400	Strong transcription	Fetal Thymus	thymus
19	chr2:98272200-98278400	Strong transcription	Fetal Intestine Small	intestine
20	chr2:98272600-98278200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:98272800-98277600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:98273400-98277600	Strong transcription	Esophagus	oesophagus
23	chr2:98274200-98277600	Strong transcription	Gastric	stomach
24	chr2:98275200-98278000	Weak transcription	Hela-S3	cervix
25	chr2:98275200-98278800	Enhancers	Fetal Heart	heart
26	chr2:98275400-98277800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:98275400-98278800	Weak transcription	A549	lung
28	chr2:98275400-98279200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:98275600-98278000	Weak transcription	Brain Substantia Nigra	brain
30	chr2:98275600-98278200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:98275800-98277800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:98275800-98277800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:98275800-98277800	Genic enhancers	Spleen	Spleen
34	chr2:98275800-98278200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:98275800-98278200	Weak transcription	HMEC	breast
36	chr2:98275800-98278600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:98276000-98277600	Genic enhancers	Pancreas	Pancrea
38	chr2:98276000-98277800	Weak transcription	Primary B cells from cord blood	blood
39	chr2:98276000-98278400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:98276000-98279400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:98276200-98278200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:98276200-98278600	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr2:98276200-98278600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:98276200-98279200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:98276400-98277800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:98276400-98278200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:98276400-98278200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:98276600-98278000	Weak transcription	GM12878-XiMat	blood
49	chr2:98276600-98278400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:98276600-98278600	Weak transcription	Placenta Amnion	Placenta Amnion

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