Variant report

Variant	rs516573
Chromosome Location	chr11:75340146-75340147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75324179..75326709-chr11:75339433..75341583,3	K562	blood:
2	chr11:75332696..75337381-chr11:75337684..75342464,5	K562	blood:
3	chr11:75324396..75326709-chr11:75339433..75341143,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10751245	0.85[ASN][1000 genomes]
rs12225010	0.80[AMR][1000 genomes]
rs2509615	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs530260	0.85[ASN][1000 genomes]
rs538956	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs540461	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs590611	0.85[ASN][1000 genomes]
rs599783	0.82[EUR][1000 genomes]
rs629238	0.84[EUR][1000 genomes]
rs640703	0.84[EUR][1000 genomes]
rs646989	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs668581	0.93[EUR][1000 genomes]
rs670923	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs677283	0.84[EUR][1000 genomes]
rs75954	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75305800-75346200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:75317600-75346200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:75326800-75343600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:75330000-75350800	Weak transcription	Lung	lung
5	chr11:75330200-75356200	Weak transcription	Aorta	Aorta
6	chr11:75335200-75340200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:75335200-75340200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:75335400-75343000	Weak transcription	Fetal Intestine Small	intestine
9	chr11:75335400-75346800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:75336000-75343200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:75338000-75340200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:75338000-75344000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:75338000-75346000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:75338400-75341200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:75338600-75342200	Weak transcription	Fetal Brain Male	brain
16	chr11:75338600-75343400	Weak transcription	Fetal Brain Female	brain
17	chr11:75338800-75340800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:75338800-75341200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:75338800-75346400	Weak transcription	Brain Anterior Caudate	brain
20	chr11:75339000-75344800	Weak transcription	Fetal Heart	heart
21	chr11:75339000-75350400	Weak transcription	Brain Angular Gyrus	brain
22	chr11:75339200-75346400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:75339200-75346600	Weak transcription	Spleen	Spleen
24	chr11:75339400-75346200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:75339600-75340800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:75339600-75344200	Weak transcription	Fetal Stomach	stomach
27	chr11:75339600-75344600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:75339600-75345600	Weak transcription	Ovary	ovary
29	chr11:75339800-75340200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:75339800-75341000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:75339800-75342400	Weak transcription	HSMMtube	muscle
32	chr11:75339800-75343800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:75339800-75344800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:75339800-75344800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:75340000-75344400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:75340000-75344400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:75340000-75344400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:75340000-75344600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:75340000-75344600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:75340000-75352600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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