Variant report

Variant	rs11944094
Chromosome Location	chr4:48345135-48345136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48343471..48345353-chr4:48369021..48370568,2	MCF-7	breast:
2	chr4:48343572..48346544-chr4:48354204..48356298,2	K562	blood:
3	chr4:48344085..48345850-chr4:48830456..48833422,2	K562	blood:
4	chr4:48343973..48346063-chr4:48356828..48359174,2	K562	blood:

Variant related genes	Relation type
ENSG00000109180	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11931685	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11932591	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11945332	1.00[AMR][1000 genomes]
rs11946788	1.00[AMR][1000 genomes]
rs28692953	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34304088	1.00[AMR][1000 genomes]
rs6822588	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6823580	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6856469	0.88[AFR][1000 genomes];1.00[AMR][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	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr4:48342000-48345400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:48342000-48345400	Active TSS	Fetal Intestine Large	intestine
3	chr4:48342000-48345600	Active TSS	Fetal Intestine Small	intestine
4	chr4:48342200-48345200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr4:48342200-48345200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:48342200-48345200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr4:48342200-48345200	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr4:48342200-48345400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:48342200-48345400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:48342200-48345400	Active TSS	Brain Anterior Caudate	brain
11	chr4:48342200-48345600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr4:48342200-48345800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:48342400-48345200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr4:48342400-48345200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:48342400-48345200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:48342400-48345200	Active TSS	Brain Angular Gyrus	brain
17	chr4:48342400-48345200	Active TSS	Colon Smooth Muscle	Colon
18	chr4:48342400-48345200	Active TSS	Fetal Muscle Trunk	muscle
19	chr4:48342400-48345200	Active TSS	Left Ventricle	heart
20	chr4:48342400-48345400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:48342400-48345400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:48342400-48345400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr4:48342400-48345400	Active TSS	Ovary	ovary
24	chr4:48342400-48345600	Active TSS	Brain Germinal Matrix	brain
25	chr4:48342400-48346000	Active TSS	Aorta	Aorta
26	chr4:48342400-48346200	Active TSS	Psoas Muscle	Psoas
27	chr4:48342400-48346200	Active TSS	Stomach Smooth Muscle	stomach
28	chr4:48342400-48346600	Active TSS	Right Ventricle	heart
29	chr4:48342600-48345200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:48342600-48345200	Active TSS	Fetal Brain Female	brain
31	chr4:48342600-48345200	Active TSS	Fetal Kidney	kidney
32	chr4:48342600-48345200	Active TSS	Fetal Thymus	thymus
33	chr4:48342600-48345400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:48342600-48345400	Active TSS	Placenta	Placenta
35	chr4:48342600-48345400	Active TSS	Fetal Stomach	stomach
36	chr4:48342600-48345400	Active TSS	Thymus	Thymus
37	chr4:48342600-48345400	Active TSS	NHDF-Ad	bronchial
38	chr4:48342600-48345600	Active TSS	Fetal Muscle Leg	muscle
39	chr4:48342600-48345600	Active TSS	K562	blood
40	chr4:48342600-48345800	Active TSS	NHLF	lung
41	chr4:48342800-48345200	Active TSS	NH-A	brain
42	chr4:48342800-48345600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:48342800-48345600	Active TSS	HSMMtube	muscle
44	chr4:48342800-48345800	Active TSS	HSMM	muscle
45	chr4:48343000-48345200	Active TSS	Muscle Satellite Cultured Cells	--
46	chr4:48343000-48345200	Active TSS	Hela-S3	cervix
47	chr4:48343000-48345200	Active TSS	NHEK	skin
48	chr4:48343000-48345400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:48343000-48345400	Active TSS	HMEC	breast
50	chr4:48343000-48345600	Active TSS	Cortex derived primary cultured neurospheres	brain

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