Variant report

Variant	rs73015634
Chromosome Location	chr4:187609847-187609848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11944099	1.00[EUR][1000 genomes]
rs11947727	1.00[EUR][1000 genomes]
rs2584352	1.00[EUR][1000 genomes]
rs73017582	1.00[EUR][1000 genomes]
rs73019654	1.00[EUR][1000 genomes]
rs73019698	1.00[EUR][1000 genomes]
rs9968531	1.00[EUR][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	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv881509	chr4:187574398-187614434	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187583000-187614400	Weak transcription	Colonic Mucosa	Colon
2	chr4:187587600-187610200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:187591200-187614400	Weak transcription	Ovary	ovary
4	chr4:187598200-187614400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:187600200-187617000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:187604400-187611600	Enhancers	Fetal Lung	lung
7	chr4:187604600-187618000	Weak transcription	Fetal Stomach	stomach
8	chr4:187604600-187626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:187605000-187610400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr4:187605800-187611200	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:187605800-187614400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:187606000-187610000	Enhancers	NHDF-Ad	bronchial
13	chr4:187606000-187610800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:187606000-187610800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:187606000-187611800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:187606000-187612000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:187606200-187610800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:187606200-187611000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:187606200-187614000	Weak transcription	Right Ventricle	heart
20	chr4:187606400-187614400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:187606400-187614400	Weak transcription	Brain Anterior Caudate	brain
22	chr4:187606800-187611200	Enhancers	Fetal Heart	heart
23	chr4:187607000-187611600	Enhancers	Colon Smooth Muscle	Colon
24	chr4:187607000-187614400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:187607000-187614400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:187607400-187614000	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:187607400-187614200	Weak transcription	Hela-S3	cervix
28	chr4:187607400-187618200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:187607800-187610800	Enhancers	HepG2	liver
30	chr4:187608000-187610400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:187608000-187611000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:187608000-187611600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:187608000-187614400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:187608000-187619400	Weak transcription	Small Intestine	intestine
35	chr4:187608000-187632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr4:187608200-187611000	Weak transcription	Fetal Intestine Small	intestine
37	chr4:187608200-187612600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:187608200-187622200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:187608400-187614000	Weak transcription	Adipose Nuclei	Adipose
40	chr4:187608400-187614400	Weak transcription	HSMMtube	muscle
41	chr4:187608600-187611200	Genic enhancers	NHEK	skin
42	chr4:187608600-187614000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:187608600-187614400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:187608800-187610600	Weak transcription	HMEC	breast
45	chr4:187608800-187610600	Weak transcription	NHLF	lung
46	chr4:187608800-187611400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:187609000-187610000	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr4:187609000-187610000	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr4:187609000-187610200	Enhancers	Stomach Mucosa	stomach
50	chr4:187609000-187610600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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