Variant report

Variant	rs11944001
Chromosome Location	chr4:106201014-106201015
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10003144	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10006632	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10006721	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10008189	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10017522	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10018267	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10022126	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022891	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10023701	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10026237	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10027791	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10033325	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932794	0.97[ASN][1000 genomes]
rs11938493	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11941838	1.00[ASN][1000 genomes]
rs11943394	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944085	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505746	0.89[ASN][1000 genomes]
rs2017763	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28394039	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28655620	0.82[ASN][1000 genomes]
rs28707121	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3733609	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796927	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235413	0.92[ASN][1000 genomes]
rs55793049	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58862751	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59339947	0.95[ASN][1000 genomes]
rs59806714	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60886348	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6826102	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831247	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831445	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833560	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6835030	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839609	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843141	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6857812	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955167	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955198	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73836047	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73836048	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73836052	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73836055	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73838074	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7662448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696287	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696337	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698398	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7698522	0.92[ASN][1000 genomes]
rs7700148	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs871215	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931653	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9985622	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9993497	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9998069	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv879698	chr4:106155751-106309224	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106187200-106202000	Weak transcription	Stomach Mucosa	stomach
2	chr4:106196600-106202000	Weak transcription	Psoas Muscle	Psoas
3	chr4:106197400-106201600	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:106197400-106201800	Weak transcription	NHEK	skin
5	chr4:106197400-106202000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:106197400-106210200	Weak transcription	Small Intestine	intestine
7	chr4:106197600-106201400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:106197600-106202000	Weak transcription	Aorta	Aorta
9	chr4:106197600-106204000	Weak transcription	Fetal Intestine Small	intestine
10	chr4:106197800-106201200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:106197800-106201200	Weak transcription	HSMMtube	muscle
12	chr4:106197800-106201400	Weak transcription	Fetal Lung	lung
13	chr4:106197800-106201400	Weak transcription	HUVEC	blood vessel
14	chr4:106197800-106202000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:106197800-106202000	Weak transcription	Adipose Nuclei	Adipose
16	chr4:106197800-106202000	Weak transcription	Brain Anterior Caudate	brain
17	chr4:106197800-106202000	Weak transcription	Pancreas	Pancrea
18	chr4:106197800-106202000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:106197800-106202200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:106197800-106202800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:106197800-106203200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:106197800-106204000	Weak transcription	Primary T cells from cord blood	blood
23	chr4:106197800-106204000	Weak transcription	Fetal Kidney	kidney
24	chr4:106198000-106201200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:106198000-106201200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:106198000-106201200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:106198000-106201200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:106198000-106201200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:106198000-106201200	Weak transcription	NH-A	brain
30	chr4:106198000-106201200	Weak transcription	Osteobl	bone
31	chr4:106198000-106201400	Weak transcription	Esophagus	oesophagus
32	chr4:106198000-106201400	Weak transcription	Fetal Stomach	stomach
33	chr4:106198000-106201600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:106198000-106201800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:106198000-106201800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:106198000-106201800	Weak transcription	Brain Substantia Nigra	brain
37	chr4:106198000-106201800	Weak transcription	Right Ventricle	heart
38	chr4:106198000-106201800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:106198000-106202000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:106198000-106202000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr4:106198000-106202000	Weak transcription	Lung	lung
42	chr4:106198000-106202000	Weak transcription	Ovary	ovary
43	chr4:106198000-106202800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr4:106198000-106203200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:106198000-106204600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:106198000-106210600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:106198000-106210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:106198200-106201200	Weak transcription	Primary B cells from cord blood	blood
49	chr4:106198200-106201200	Weak transcription	Fetal Muscle Leg	muscle
50	chr4:106198200-106201400	Weak transcription	NHLF	lung

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