Variant report

Variant	rs11941824
Chromosome Location	chr4:77066387-77066388
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77047745..77051558-chr4:77062903..77066801,7	K562	blood:
2	chr4:77065569..77067596-chr4:77067716..77071190,4	MCF-7	breast:
3	chr4:77050141..77053778-chr4:77066166..77070004,4	MCF-7	breast:
4	chr4:77066331..77070645-chr4:77133023..77136401,5	K562	blood:
5	chr4:77065717..77067394-chr4:77069102..77070883,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138750	Chromatin interaction
ENSG00000189157	Chromatin interaction
ENSG00000138760	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1128864	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12641564	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13151075	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14773	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28627281	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3806732	0.84[ASN][1000 genomes]
rs4859615	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58943792	0.84[ASN][1000 genomes]
rs6838435	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6847897	0.82[ASN][1000 genomes]
rs6850228	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7668413	0.81[ASN][1000 genomes]
rs7678836	0.81[ASN][1000 genomes]
rs894254	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv470047	chr4:77033590-77096777	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv594693	chr4:77033590-77101068	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv461558	chr4:77033725-77115553	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv594694	chr4:77033725-77115553	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1008318	chr4:77042356-77095658	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv537144	chr4:77042356-77095658	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1000539	chr4:77042356-77105492	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1000178	chr4:77053046-77113080	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr4:77028000-77068600	Weak transcription	Gastric	stomach
2	chr4:77032600-77067600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:77033200-77068400	Weak transcription	Small Intestine	intestine
4	chr4:77033400-77066600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:77034400-77067200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:77035000-77068400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:77035200-77068600	Weak transcription	Pancreas	Pancrea
8	chr4:77035600-77068400	Weak transcription	Right Ventricle	heart
9	chr4:77039000-77068200	Weak transcription	Psoas Muscle	Psoas
10	chr4:77039000-77068600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:77044200-77068200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:77045000-77068600	Weak transcription	Spleen	Spleen
13	chr4:77050200-77068000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:77051400-77068600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:77055600-77067200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr4:77057000-77068200	Weak transcription	Colonic Mucosa	Colon
17	chr4:77057400-77067400	Weak transcription	Fetal Brain Male	brain
18	chr4:77058800-77068400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:77062400-77066600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:77062400-77067200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:77062400-77067600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:77062400-77067800	Weak transcription	Fetal Stomach	stomach
23	chr4:77062400-77068600	Weak transcription	Aorta	Aorta
24	chr4:77062400-77068600	Weak transcription	Esophagus	oesophagus
25	chr4:77062400-77068600	Weak transcription	Lung	lung
26	chr4:77062600-77067600	Weak transcription	NHLF	lung
27	chr4:77062600-77068400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:77062600-77068600	Weak transcription	Left Ventricle	heart
29	chr4:77062800-77067400	Weak transcription	Brain Angular Gyrus	brain
30	chr4:77062800-77067600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:77062800-77068000	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:77062800-77068200	Weak transcription	Ovary	ovary
33	chr4:77063000-77067400	Weak transcription	A549	lung
34	chr4:77063200-77067600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:77063200-77067800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:77063200-77068000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr4:77063200-77068200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:77063400-77067200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr4:77063400-77067600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:77063400-77068200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:77063400-77068200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:77063600-77066600	Weak transcription	Colon Smooth Muscle	Colon
43	chr4:77063800-77066800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:77063800-77067000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:77063800-77067200	Weak transcription	NHEK	skin
46	chr4:77063800-77067400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr4:77063800-77067600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr4:77063800-77067800	Weak transcription	Fetal Heart	heart
49	chr4:77064000-77067000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr4:77064000-77067200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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