Variant report

Variant	rs2250433
Chromosome Location	chr7:101372651-101372652
allele	A/G
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101360472..101364691-chr7:101369638..101374194,4	K562	blood:
2	chr7:101365806..101367484-chr7:101370262..101372822,3	K562	blood:
3	chr7:101369491..101371079-chr7:101371516..101374342,2	MCF-7	breast:
4	chr7:101370298..101373054-chr7:101584171..101586451,2	MCF-7	breast:
5	chr7:101369100..101373067-chr7:101374919..101378261,3	K562	blood:
6	chr20:34252525..34253108-chr7:101372415..101373283,2	Hela-S3	cervix:
7	chr7:101359528..101362739-chr7:101371224..101372891,4	MCF-7	breast:
8	chr7:101364262..101367929-chr7:101368962..101372975,5	MCF-7	breast:
9	chr7:101371362..101372936-chr7:101382706..101384319,2	MCF-7	breast:
10	chr7:101365013..101367690-chr7:101372321..101375439,3	MCF-7	breast:
11	chr7:101346607..101348692-chr7:101371323..101373114,2	MCF-7	breast:
12	chr20:30195005..30195928-chr7:101372219..101372748,2	Hela-S3	cervix:
13	chr7:101371203..101374473-chr7:101456114..101459294,3	MCF-7	breast:
14	chr7:101370197..101372685-chr7:101384392..101387047,2	K562	blood:
15	chr7:101342279..101347280-chr7:101371204..101374879,9	MCF-7	breast:
16	chr7:101366199..101374490-chr7:101455423..101462621,17	MCF-7	breast:
17	chr7:101342424..101345349-chr7:101371267..101374522,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction
ENSG00000244462	Chromatin interaction
ENSG00000214078	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1965519	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2429067	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529238	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2529240	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2529241	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2690950	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1018544	chr7:101225639-101424889	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv539045	chr7:101225639-101424889	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv482758	chr7:101231458-101395219	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101332000-101376800	Weak transcription	Right Atrium	heart
2	chr7:101364800-101382400	Weak transcription	Thymus	Thymus
3	chr7:101369000-101373400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:101369000-101373600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr7:101369600-101377400	Weak transcription	Spleen	Spleen
6	chr7:101370000-101374200	Enhancers	Fetal Intestine Large	intestine
7	chr7:101370400-101374800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:101371000-101373600	Enhancers	Fetal Intestine Small	intestine
9	chr7:101371200-101372800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:101371400-101373400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:101371400-101373600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:101371400-101373600	Enhancers	HSMM	muscle
13	chr7:101371600-101373000	Weak transcription	Colonic Mucosa	Colon
14	chr7:101371600-101373800	Enhancers	Stomach Mucosa	stomach
15	chr7:101371600-101376600	Weak transcription	GM12878-XiMat	blood
16	chr7:101371600-101376800	Weak transcription	Primary B cells from cord blood	blood
17	chr7:101372200-101372800	Flanking Active TSS	Hela-S3	cervix
18	chr7:101372200-101373600	Enhancers	Placenta	Placenta
19	chr7:101372200-101373600	Enhancers	Osteobl	bone
20	chr7:101372200-101374200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:101372400-101372800	Enhancers	Duodenum Mucosa	Duodenum
22	chr7:101372400-101373200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:101372400-101373400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:101372400-101373600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:101372400-101376600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:101372400-101376600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:101372400-101376800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:101372600-101372800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr7:101372600-101373000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:101372600-101373000	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr7:101372600-101373200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:101372600-101373200	Enhancers	Lung	lung
33	chr7:101372600-101373200	Flanking Active TSS	HepG2	liver
34	chr7:101372600-101373400	Enhancers	Gastric	stomach
35	chr7:101372600-101373400	Flanking Active TSS	K562	blood
36	chr7:101372600-101373600	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr7:101372600-101373600	Enhancers	HSMMtube	muscle
38	chr7:101372600-101374000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links