Variant report

Variant	rs58926149
Chromosome Location	chr2:96928574-96928575
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96923812..96929557-chr2:96929618..96934014,11	K562	blood:
2	chr2:96866562..96869403-chr2:96928080..96929883,2	K562	blood:
3	chr2:96810611..96813061-chr2:96927230..96929575,2	K562	blood:
4	chr2:96815199..96817258-chr2:96927223..96929849,2	K562	blood:
5	chr2:96868913..96876440-chr2:96928017..96934530,23	K562	blood:
6	chr2:96927795..96929440-chr2:97175507..97178094,2	MCF-7	breast:
7	chr2:96888662..96890849-chr2:96927817..96930448,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135956	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000144021	Chromatin interaction
ENSG00000158050	Chromatin interaction
ENSG00000228873	Chromatin interaction
ENSG00000084090	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs60893927	1.00[AFR][1000 genomes]
rs73958190	1.00[AFR][1000 genomes]
rs73958197	1.00[AFR][1000 genomes]
rs73958200	1.00[AFR][1000 genomes]
rs73958202	1.00[AFR][1000 genomes]
rs73960840	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96914400-96929800	Strong transcription	Fetal Stomach	stomach
2	chr2:96916000-96929400	Strong transcription	Dnd41	blood
3	chr2:96917400-96929600	Strong transcription	Brain Germinal Matrix	brain
4	chr2:96918200-96929400	Weak transcription	Fetal Brain Male	brain
5	chr2:96918200-96929600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:96920200-96930600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:96921000-96929800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:96921200-96929800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:96921200-96930200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:96921800-96930200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:96923400-96929600	Strong transcription	Fetal Brain Female	brain
12	chr2:96923800-96928800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:96923800-96929400	Enhancers	Right Atrium	heart
14	chr2:96923800-96930600	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr2:96924000-96929200	Strong transcription	Thymus	Thymus
16	chr2:96924200-96929800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:96924400-96930200	Enhancers	Pancreas	Pancrea
18	chr2:96924800-96929800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:96925000-96929800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr2:96925200-96929800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:96926400-96929400	Enhancers	Fetal Heart	heart
22	chr2:96926600-96929400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:96926600-96930000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:96926800-96928600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:96926800-96929400	Weak transcription	Aorta	Aorta
26	chr2:96926800-96930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:96926800-96930200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:96927000-96929400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:96927000-96929400	Weak transcription	Brain Angular Gyrus	brain
30	chr2:96927000-96929400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:96927000-96929800	Genic enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:96927000-96930200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:96927000-96930800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr2:96927200-96928600	Genic enhancers	NHEK	skin
35	chr2:96927200-96929400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:96927200-96929600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
37	chr2:96927200-96929800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:96927200-96930000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:96927400-96928800	Weak transcription	Primary B cells from cord blood	blood
40	chr2:96927400-96929000	Strong transcription	Brain Hippocampus Middle	brain
41	chr2:96927400-96929400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:96927400-96929400	Strong transcription	Brain Anterior Caudate	brain
43	chr2:96927400-96929400	Weak transcription	Esophagus	oesophagus
44	chr2:96927400-96929400	Weak transcription	NHLF	lung
45	chr2:96927400-96929800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:96927400-96929800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:96927400-96929800	Weak transcription	Small Intestine	intestine
48	chr2:96927400-96930000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:96927600-96928600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:96927600-96928800	Genic enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links