Variant report

Variant	rs73084491
Chromosome Location	chr4:7819644-7819645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7817490..7819833-chr4:7830199..7832039,2	K562	blood:
2	chr4:7817490..7820534-chr4:7830199..7832039,3	K562	blood:
3	chr4:7818460..7820278-chr4:7939852..7941606,2	MCF-7	breast:
4	chr4:7818745..7823196-chr4:7823235..7826855,4	K562	blood:

Variant related genes	Relation type
ENSG00000228919	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11728881	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11728891	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11736967	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4234832	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4274847	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4689877	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59513878	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60116284	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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	8 gene(s)	inside rSNPs	diseases
5	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7770800-7828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7784000-7821200	Weak transcription	Small Intestine	intestine
3	chr4:7787000-7829400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:7791000-7829400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:7800600-7828800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:7802200-7819800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:7804000-7829200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:7805200-7822600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:7806400-7824600	Weak transcription	Fetal Thymus	thymus
10	chr4:7808000-7823000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:7808600-7830000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:7809600-7822400	Weak transcription	Brain Substantia Nigra	brain
13	chr4:7809600-7823000	Weak transcription	Brain Angular Gyrus	brain
14	chr4:7809600-7828000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:7809800-7820000	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:7809800-7823400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:7809800-7823400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:7810000-7823400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:7810200-7821000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:7812800-7822200	Genic enhancers	NH-A	brain
21	chr4:7813400-7819800	Weak transcription	Right Atrium	heart
22	chr4:7813400-7825200	Weak transcription	Right Ventricle	heart
23	chr4:7813400-7829800	Weak transcription	Spleen	Spleen
24	chr4:7814000-7819800	Weak transcription	Colonic Mucosa	Colon
25	chr4:7814000-7821000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr4:7814000-7822200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:7814200-7822400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:7814200-7823000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:7814400-7819800	Strong transcription	Fetal Intestine Small	intestine
30	chr4:7814400-7823800	Weak transcription	Stomach Mucosa	stomach
31	chr4:7814400-7826600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:7814600-7819800	Weak transcription	Esophagus	oesophagus
33	chr4:7814600-7821800	Strong transcription	Adipose Nuclei	Adipose
34	chr4:7814600-7822200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:7814600-7822600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:7814600-7822600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr4:7814600-7824800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:7814800-7829800	Genic enhancers	Osteobl	bone
39	chr4:7815200-7820000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr4:7815200-7821400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:7815400-7819800	Strong transcription	Fetal Intestine Large	intestine
42	chr4:7815400-7819800	Strong transcription	Placenta	Placenta
43	chr4:7815400-7821200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:7815600-7821200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:7816000-7819800	Weak transcription	Pancreas	Pancrea
46	chr4:7816200-7820000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr4:7816200-7820800	Strong transcription	NHEK	skin
48	chr4:7816200-7821200	Strong transcription	Aorta	Aorta
49	chr4:7816200-7821600	Strong transcription	Lung	lung
50	chr4:7816400-7820000	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links