Variant report

Variant	rs9995912
Chromosome Location	chr4:186769324-186769325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10000195	0.87[AFR][1000 genomes]
rs10004099	1.00[AFR][1000 genomes]
rs10007894	1.00[AFR][1000 genomes]
rs10023215	1.00[AFR][1000 genomes]
rs28369145	1.00[AFR][1000 genomes]
rs28428970	1.00[AFR][1000 genomes]
rs28458856	0.86[AFR][1000 genomes]
rs28502159	1.00[AFR][1000 genomes]
rs28538607	1.00[AFR][1000 genomes]
rs28550709	0.86[AFR][1000 genomes]
rs28711225	1.00[AFR][1000 genomes]
rs9990488	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186761200-186778400	Weak transcription	Aorta	Aorta
2	chr4:186767600-186769400	Enhancers	NHEK	skin
3	chr4:186767800-186769400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:186767800-186769400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:186767800-186769400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:186767800-186769400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:186767800-186769400	Enhancers	Fetal Muscle Leg	muscle
8	chr4:186768400-186769400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:186768400-186769400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:186768400-186769400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr4:186768400-186769400	Enhancers	Placenta	Placenta
12	chr4:186768400-186769400	Flanking Active TSS	HSMMtube	muscle
13	chr4:186768400-186769600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr4:186768600-186769400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:186768600-186769400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr4:186768600-186769400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:186768600-186769400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:186768600-186769400	Enhancers	Right Ventricle	heart
19	chr4:186768600-186769400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr4:186768600-186769600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:186768600-186769600	Enhancers	Right Atrium	heart
22	chr4:186768600-186770000	Enhancers	Left Ventricle	heart
23	chr4:186768600-186772200	Enhancers	Fetal Brain Male	brain
24	chr4:186768800-186769400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:186768800-186769400	Enhancers	HepG2	liver
26	chr4:186768800-186769400	Enhancers	NHDF-Ad	bronchial
27	chr4:186769000-186769400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:186769000-186769400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:186769000-186769600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:186769000-186770200	Weak transcription	Adipose Nuclei	Adipose
31	chr4:186769000-186770200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:186769000-186770800	Weak transcription	Fetal Lung	lung
33	chr4:186769000-186770800	Weak transcription	Fetal Stomach	stomach
34	chr4:186769000-186771800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:186769000-186780400	Weak transcription	Pancreas	Pancrea
36	chr4:186769200-186769400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:186769200-186769400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr4:186769200-186769400	Enhancers	A549	lung
39	chr4:186769200-186769600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:186769200-186770200	Enhancers	Hela-S3	cervix
41	chr4:186769200-186770600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:186769200-186770800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:186769200-186771200	Enhancers	Fetal Heart	heart
44	chr4:186769200-186771600	Enhancers	HSMM	muscle
45	chr4:186769200-186779000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links