Variant report

Variant	rs73873396
Chromosome Location	chr4:186730520-186730521
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186725458..186728361-chr4:186729374..186731858,3	K562	blood:
2	chr4:186725458..186728006-chr4:186729374..186731176,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28472422	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28578545	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28582258	1.00[EUR][1000 genomes]
rs73873386	0.94[EUR][1000 genomes]
rs73873388	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73873390	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73873392	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS 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	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv1015931	chr4:186683165-186734480	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186716200-186731800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:186719000-186731800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:186724800-186731800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:186725600-186731800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:186726400-186733600	Active TSS	Right Atrium	heart
6	chr4:186726400-186733800	Active TSS	Right Ventricle	heart
7	chr4:186726800-186730800	Weak transcription	Brain Germinal Matrix	brain
8	chr4:186727000-186731800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:186727200-186732800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:186727400-186730800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:186727400-186731400	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:186727400-186732000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:186727600-186731800	Weak transcription	Stomach Mucosa	stomach
14	chr4:186728400-186734400	Active TSS	Liver	Liver
15	chr4:186728600-186733800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr4:186729200-186731000	Active TSS	Fetal Heart	heart
17	chr4:186729600-186730800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:186729600-186731200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:186729600-186732800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:186729600-186733200	Active TSS	Fetal Kidney	kidney
21	chr4:186729600-186733600	Active TSS	Brain Anterior Caudate	brain
22	chr4:186729800-186731000	Enhancers	Fetal Brain Male	brain
23	chr4:186729800-186732000	Active TSS	GM12878-XiMat	blood
24	chr4:186729800-186732800	Active TSS	Brain Cingulate Gyrus	brain
25	chr4:186729800-186732800	Active TSS	Fetal Stomach	stomach
26	chr4:186729800-186733600	Active TSS	Rectal Smooth Muscle	rectum
27	chr4:186729800-186733800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:186729800-186733800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr4:186730000-186730600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:186730000-186730800	Active TSS	Fetal Brain Female	brain
31	chr4:186730200-186730600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr4:186730200-186730600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:186730200-186730600	Bivalent/Poised TSS	HepG2	liver
34	chr4:186730200-186731400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:186730200-186731600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:186730200-186731800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr4:186730200-186731800	Enhancers	Fetal Lung	lung
38	chr4:186730200-186733000	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr4:186730200-186733600	Active TSS	Left Ventricle	heart
40	chr4:186730200-186733600	Active TSS	Pancreas	Pancrea
41	chr4:186730200-186733600	Active TSS	Stomach Smooth Muscle	stomach
42	chr4:186730200-186733800	Active TSS	Brain Angular Gyrus	brain
43	chr4:186730200-186733800	Active TSS	Colon Smooth Muscle	Colon
44	chr4:186730200-186733800	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr4:186730400-186730600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:186730400-186730600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:186730400-186730600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:186730400-186730600	Enhancers	Colonic Mucosa	Colon
49	chr4:186730400-186730600	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr4:186730400-186730600	Flanking Active TSS	Ovary	ovary

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