Variant report

Variant	rs11910447
Chromosome Location	chr21:37698213-37698214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:37696119..37698828-chr21:37701284..37703538,3	MCF-7	breast:
2	chr21:37696577..37699463-chr21:37722211..37724078,2	K562	blood:
3	chr21:37697466..37699169-chr21:37720269..37722082,2	K562	blood:
4	chr21:37697466..37700013-chr21:37719541..37722082,2	K562	blood:
5	chr21:37692303..37695285-chr21:37697938..37699713,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273199	Chromatin interaction
ENSG00000159256	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10483033	1.00[EUR][1000 genomes]
rs11909470	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11909757	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11910005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11911904	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16994069	1.00[EUR][1000 genomes]
rs28688747	1.00[EUR][1000 genomes]
rs57154050	1.00[EUR][1000 genomes]
rs59261999	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59270005	1.00[EUR][1000 genomes]
rs61094968	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381601	1.00[EUR][1000 genomes]
rs73383707	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383713	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383714	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383715	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73383719	0.87[AFR][1000 genomes]
rs73383722	1.00[EUR][1000 genomes]
rs73385706	1.00[EUR][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	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3449475	chr21:37539524-37700336	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv913734	chr21:37617630-37718587	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37693600-37702800	Weak transcription	Ovary	ovary
2	chr21:37694200-37709600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:37694400-37699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:37694400-37699600	Weak transcription	Brain Substantia Nigra	brain
5	chr21:37694400-37699600	Weak transcription	Right Atrium	heart
6	chr21:37694400-37699800	Weak transcription	Brain Anterior Caudate	brain
7	chr21:37694400-37699800	Weak transcription	Stomach Mucosa	stomach
8	chr21:37694400-37700200	Weak transcription	Spleen	Spleen
9	chr21:37694400-37702200	Weak transcription	Colonic Mucosa	Colon
10	chr21:37694400-37702800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr21:37694400-37703200	Weak transcription	Fetal Kidney	kidney
12	chr21:37694400-37709200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr21:37694400-37713000	Weak transcription	Esophagus	oesophagus
14	chr21:37694400-37713600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr21:37694400-37718200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr21:37694600-37701600	Weak transcription	NH-A	brain
17	chr21:37694600-37705600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr21:37694600-37706200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr21:37694600-37709000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr21:37694800-37700000	Weak transcription	Right Ventricle	heart
21	chr21:37695000-37700200	Weak transcription	Lung	lung
22	chr21:37695000-37701600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr21:37695000-37701600	Weak transcription	Gastric	stomach
24	chr21:37695000-37704400	Weak transcription	Aorta	Aorta
25	chr21:37695000-37706400	Weak transcription	Thymus	Thymus
26	chr21:37695000-37713800	Weak transcription	Fetal Brain Male	brain
27	chr21:37695200-37699400	Weak transcription	Left Ventricle	heart
28	chr21:37695200-37700000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:37695400-37698600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:37695400-37699200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr21:37695400-37700400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
32	chr21:37695600-37702200	Weak transcription	Brain Germinal Matrix	brain
33	chr21:37695600-37702400	Strong transcription	Fetal Thymus	thymus
34	chr21:37695800-37698600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr21:37695800-37699200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr21:37695800-37699600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr21:37695800-37699600	Weak transcription	Small Intestine	intestine
38	chr21:37695800-37699800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr21:37695800-37699800	Weak transcription	Brain Angular Gyrus	brain
40	chr21:37695800-37702600	Weak transcription	Fetal Heart	heart
41	chr21:37695800-37708800	Weak transcription	HSMMtube	muscle
42	chr21:37696000-37699600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr21:37696000-37699800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr21:37696000-37703000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr21:37696000-37705400	Weak transcription	Dnd41	blood
46	chr21:37696000-37708600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr21:37696200-37699000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr21:37696200-37699800	Weak transcription	Colon Smooth Muscle	Colon
49	chr21:37696200-37701600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr21:37696200-37702200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links