Variant report

Variant	rs11204850
Chromosome Location	chr1:151540302-151540303
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151482728..151486205-chr1:151540004..151544693,5	MCF-7	breast:
2	chr1:151538923..151541258-chr1:151872642..151874684,2	K562	blood:
3	chr1:151534117..151538483-chr1:151538584..151542578,5	MCF-7	breast:
4	chr1:151539929..151545457-chr1:151553538..151558687,9	MCF-7	breast:
5	chr1:151510961..151514204-chr1:151540033..151544637,10	MCF-7	breast:
6	chr1:151538431..151540446-chr1:151543775..151547302,3	MCF-7	breast:
7	chr1:151539778..151542331-chr1:151689893..151691713,2	MCF-7	breast:
8	chr1:151539684..151544323-chr1:151552691..151557234,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232536	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143375	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11204853	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11204854	1.00[AMR][1000 genomes]
rs11204856	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12031503	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12409434	0.97[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3790505	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs60393350	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151514400-151540800	Weak transcription	Brain Angular Gyrus	brain
2	chr1:151514400-151556800	Weak transcription	Fetal Brain Male	brain
3	chr1:151520600-151542000	Weak transcription	Right Ventricle	heart
4	chr1:151520600-151545200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:151521800-151541800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:151521800-151559000	Weak transcription	Small Intestine	intestine
7	chr1:151522400-151540800	Weak transcription	Stomach Mucosa	stomach
8	chr1:151530200-151540800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:151531800-151542200	Strong transcription	HSMM	muscle
10	chr1:151532000-151542200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:151532200-151546400	Weak transcription	Spleen	Spleen
12	chr1:151532600-151551200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:151533000-151557200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:151533600-151541600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:151533800-151541400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:151533800-151561600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:151534200-151542000	Strong transcription	Fetal Intestine Large	intestine
18	chr1:151534200-151542200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:151534200-151542400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:151534200-151549400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:151534200-151550200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr1:151534400-151540800	Strong transcription	Fetal Intestine Small	intestine
23	chr1:151535000-151547000	Strong transcription	HSMMtube	muscle
24	chr1:151535200-151541800	Weak transcription	NHDF-Ad	bronchial
25	chr1:151535600-151547000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:151535800-151540400	Genic enhancers	NHEK	skin
27	chr1:151535800-151561800	Weak transcription	Brain Substantia Nigra	brain
28	chr1:151536000-151544600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:151536000-151546800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:151536000-151547000	Strong transcription	Placenta	Placenta
31	chr1:151536400-151540800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:151536400-151546000	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr1:151537000-151542000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:151537000-151556800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:151537400-151541400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:151537400-151556000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:151537400-151558400	Weak transcription	Fetal Kidney	kidney
38	chr1:151537600-151542200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:151537600-151546800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:151537800-151541600	Weak transcription	Colonic Mucosa	Colon
41	chr1:151537800-151541800	Weak transcription	NHLF	lung
42	chr1:151538000-151546400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:151538000-151557400	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:151538200-151541200	Weak transcription	Aorta	Aorta
45	chr1:151538200-151541400	Weak transcription	Ovary	ovary
46	chr1:151538200-151541600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:151538200-151543800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:151538200-151545200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:151538400-151540600	Strong transcription	A549	lung
50	chr1:151538400-151541800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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