Variant report

Variant	rs11694723
Chromosome Location	chr2:100878122-100878123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100877002..100888885-chr2:100934823..100940762,23	MCF-7	breast:
2	chr2:100873599..100875237-chr2:100876970..100878624,2	MCF-7	breast:
3	chr2:100876984..100878779-chr2:101034439..101036226,2	K562	blood:
4	chr2:100175250..100175825-chr2:100877866..100878774,2	MCF-7	breast:
5	chr2:100877863..100879986-chr2:100936694..100939073,4	MCF-7	breast:
6	chr2:100876613..100880348-chr2:101031611..101035939,8	K562	blood:
7	chr2:100875966..100878799-chr2:100906876..100908974,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction
ENSG00000115526	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10180423	0.85[CEU][hapmap]
rs10496346	0.81[AFR][1000 genomes]
rs11123818	0.81[AFR][1000 genomes]
rs11123821	0.81[AFR][1000 genomes]
rs11123823	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs11682748	0.85[CEU][hapmap]
rs11685491	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11687241	1.00[YRI][hapmap]
rs11689199	1.00[YRI][hapmap]
rs11689201	1.00[YRI][hapmap]
rs11693424	0.82[CEU][hapmap]
rs11695996	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12053126	0.81[AFR][1000 genomes]
rs12615145	0.81[AFR][1000 genomes]
rs12994592	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs13010010	0.81[AFR][1000 genomes]
rs13019179	0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1530028	0.85[CEU][hapmap]
rs2067783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2309812	0.81[AFR][1000 genomes]
rs2871340	0.92[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes]
rs34529583	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4331524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4438499	0.92[CEU][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4455176	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4622752	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4851267	1.00[YRI][hapmap]
rs4851278	0.80[JPT][hapmap]
rs4851292	0.82[CEU][hapmap]
rs6723909	0.93[CEU][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes]
rs7425449	0.85[CEU][hapmap]
rs7425797	0.82[CEU][hapmap]
rs764828	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs920269	0.82[CEU][hapmap]

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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100864200-100879800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:100865800-100879800	Weak transcription	Right Atrium	heart
3	chr2:100874600-100879200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:100874600-100891400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:100875200-100881600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:100877000-100879200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:100877000-100879400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:100877200-100879200	Weak transcription	Fetal Lung	lung
9	chr2:100877400-100879200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:100877600-100879200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:100877600-100879200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:100877600-100879800	Weak transcription	Fetal Brain Male	brain
13	chr2:100877600-100888600	Weak transcription	Ovary	ovary
14	chr2:100877800-100878400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:100877800-100879200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:100877800-100879200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:100877800-100880400	Weak transcription	Placenta	Placenta
18	chr2:100878000-100879000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr2:100878000-100879400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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