Variant report

Variant	rs73997607
Chromosome Location	chr2:234379139-234379140
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234370710..234373600-chr2:234378038..234379575,2	MCF-7	breast:
2	chr2:234379094..234382048-chr2:234385373..234387118,2	K562	blood:
3	chr2:234377919..234380691-chr2:234381184..234384244,3	MCF-7	breast:
4	chr2:234377292..234380088-chr2:234386184..234389025,2	MCF-7	breast:
5	chr2:234378390..234380701-chr2:234395637..234398303,2	K562	blood:
6	chr2:234378675..234382523-chr2:234390792..234394362,4	K562	blood:
7	chr2:234377166..234379474-chr2:234382800..234384518,2	K562	blood:
8	chr2:234377261..234380113-chr2:234384331..234386065,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000085982	Chromatin interaction
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs4047262	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4281901	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4392254	1.00[AMR][1000 genomes]
rs4588184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55888324	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56274731	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56306918	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56317380	1.00[AMR][1000 genomes]
rs57285092	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58330864	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58489211	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58583213	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58864422	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59543173	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59954119	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61376069	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6726032	1.00[AMR][1000 genomes]
rs6734355	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995909	1.00[AMR][1000 genomes]
rs73995911	1.00[AMR][1000 genomes]
rs73995918	1.00[AMR][1000 genomes]
rs73995919	1.00[AMR][1000 genomes]
rs73995920	1.00[AMR][1000 genomes]
rs73995921	1.00[AMR][1000 genomes]
rs73995922	1.00[AMR][1000 genomes]
rs73995923	1.00[AMR][1000 genomes]
rs73995944	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995945	0.88[AFR][1000 genomes]
rs73995946	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995947	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995948	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995949	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995950	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995970	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996001	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996105	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996107	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996118	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996119	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996120	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996121	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996124	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996138	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997606	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997608	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997630	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997631	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997633	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997637	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs745154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7580191	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7584192	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7593807	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
2	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
3	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
4	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:234343200-234383000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:234344000-234382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:234344200-234382000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:234344200-234382200	Strong transcription	Primary B cells from cord blood	blood
9	chr2:234344200-234382600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr2:234344400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:234352400-234380800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:234352400-234382000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:234352600-234380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:234352600-234380800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:234352600-234381400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:234352600-234381600	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:234352600-234381800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr2:234352600-234382600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:234352600-234382600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:234352800-234382000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:234353400-234379600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:234353400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:234353600-234381800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:234354000-234381600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:234357600-234382000	Strong transcription	Liver	Liver
26	chr2:234358200-234379400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:234361200-234389800	Weak transcription	Fetal Kidney	kidney
28	chr2:234362400-234384600	Strong transcription	Spleen	Spleen
29	chr2:234362600-234379600	Strong transcription	HSMMtube	muscle
30	chr2:234363600-234379800	Weak transcription	HMEC	breast
31	chr2:234363800-234390600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:234364000-234411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:234365800-234393600	Weak transcription	Hela-S3	cervix
34	chr2:234369200-234381400	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:234370000-234381600	Strong transcription	Fetal Thymus	thymus
36	chr2:234370000-234382000	Strong transcription	Thymus	Thymus
37	chr2:234370200-234381400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr2:234373000-234392200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:234373000-234409800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:234373200-234380200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:234373200-234382800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:234373400-234391000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:234373800-234384200	Weak transcription	Osteobl	bone
44	chr2:234373800-234404400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:234374600-234380200	Strong transcription	Dnd41	blood
46	chr2:234374800-234379400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:234375000-234379200	Strong transcription	GM12878-XiMat	blood
48	chr2:234375000-234381400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:234375200-234379400	Strong transcription	NHEK	skin
50	chr2:234375200-234380000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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