Variant report

Variant	rs7662448
Chromosome Location	chr4:106201684-106201685
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]
rs11944001	1.00[AFR][1000 genomes];1.00[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]
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:66 , 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	chr4:106197400-106201800	Weak transcription	NHEK	skin
4	chr4:106197400-106202000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:106197400-106210200	Weak transcription	Small Intestine	intestine
6	chr4:106197600-106202000	Weak transcription	Aorta	Aorta
7	chr4:106197600-106204000	Weak transcription	Fetal Intestine Small	intestine
8	chr4:106197800-106202000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:106197800-106202000	Weak transcription	Adipose Nuclei	Adipose
10	chr4:106197800-106202000	Weak transcription	Brain Anterior Caudate	brain
11	chr4:106197800-106202000	Weak transcription	Pancreas	Pancrea
12	chr4:106197800-106202000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:106197800-106202200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:106197800-106202800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:106197800-106203200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:106197800-106204000	Weak transcription	Primary T cells from cord blood	blood
17	chr4:106197800-106204000	Weak transcription	Fetal Kidney	kidney
18	chr4:106198000-106201800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:106198000-106201800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:106198000-106201800	Weak transcription	Brain Substantia Nigra	brain
21	chr4:106198000-106201800	Weak transcription	Right Ventricle	heart
22	chr4:106198000-106201800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:106198000-106202000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:106198000-106202000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:106198000-106202000	Weak transcription	Lung	lung
26	chr4:106198000-106202000	Weak transcription	Ovary	ovary
27	chr4:106198000-106202800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:106198000-106203200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:106198000-106204600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:106198000-106210600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:106198000-106210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:106198400-106203800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:106198600-106202000	Weak transcription	Fetal Thymus	thymus
34	chr4:106198600-106211800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:106198800-106201800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:106199000-106201800	Weak transcription	Fetal Intestine Large	intestine
37	chr4:106199000-106203800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr4:106199200-106202000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:106199200-106202000	Weak transcription	Left Ventricle	heart
40	chr4:106199200-106202000	Weak transcription	HSMM	muscle
41	chr4:106200600-106203000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:106200800-106204600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:106201000-106202600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:106201000-106202600	Enhancers	NHDF-Ad	bronchial
45	chr4:106201000-106203000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr4:106201000-106203200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr4:106201200-106202000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:106201200-106202200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:106201200-106202200	Enhancers	HMEC	breast
50	chr4:106201200-106202400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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