Variant report

Variant	rs73000621
Chromosome Location	chr11:120437572-120437573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120433729..120435312-chr11:120435660..120438456,2	K562	blood:

Variant related genes	Relation type
ENSG00000149403	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11599940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11600436	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11601826	0.91[AMR][1000 genomes]
rs11602075	0.87[AMR][1000 genomes]
rs11602493	0.92[EUR][1000 genomes]
rs11603180	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11824600	0.88[AMR][1000 genomes]
rs11827023	0.84[AMR][1000 genomes]
rs12279396	0.88[EUR][1000 genomes]
rs1573789	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17311310	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17311317	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17311324	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3892497	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4278519	0.94[EUR][1000 genomes]
rs4297478	0.92[AMR][1000 genomes]
rs4500499	0.94[EUR][1000 genomes]
rs4561221	0.91[AMR][1000 genomes]
rs4936521	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4938818	0.91[EUR][1000 genomes]
rs61900897	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61900900	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1051115	chr11:120376808-120446434	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1054301	chr11:120396485-120465800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1035499	chr11:120398643-120446434	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1049494	chr11:120400115-120453381	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1052932	chr11:120406628-120442955	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120436400-120437600	Enhancers	NHEK	skin
2	chr11:120436400-120440200	Weak transcription	Fetal Brain Female	brain
3	chr11:120436600-120439800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:120436800-120438000	Enhancers	HUVEC	blood vessel
5	chr11:120436800-120444800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:120437200-120438000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:120437200-120438200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:120437200-120439600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:120437200-120439800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:120437200-120440200	Weak transcription	Brain Substantia Nigra	brain
11	chr11:120437200-120445600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:120437200-120449200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:120437200-120468000	Weak transcription	Right Atrium	heart
14	chr11:120437400-120438800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:120437400-120439800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:120437400-120439800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:120437400-120440200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:120437400-120440200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:120437400-120441200	Weak transcription	Brain Angular Gyrus	brain
20	chr11:120437400-120443200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links