Variant report

Variant	rs12648988
Chromosome Location	chr4:57057994-57057995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57046901..57049380-chr4:57055137..57059248,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11133429	0.86[AMR][1000 genomes]
rs11133430	0.83[AMR][1000 genomes]
rs12501286	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12640682	1.00[EUR][1000 genomes]
rs12643797	0.86[AMR][1000 genomes]
rs12643906	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12645387	1.00[EUR][1000 genomes]
rs12646746	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12649000	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12649651	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17086449	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2127194	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4865063	0.98[AMR][1000 genomes]
rs57569247	1.00[EUR][1000 genomes]
rs73158789	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7664214	0.83[AMR][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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1012036	chr4:56963544-57106642	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57023000-57076000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:57050000-57062200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:57050000-57076000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:57050000-57084600	Weak transcription	Fetal Brain Male	brain
5	chr4:57050200-57063600	Weak transcription	HepG2	liver
6	chr4:57050600-57075800	Weak transcription	Ovary	ovary
7	chr4:57053600-57074200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:57054200-57060800	Weak transcription	Fetal Kidney	kidney
9	chr4:57054200-57072400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:57054200-57077200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:57054600-57062600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:57056600-57058000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:57056600-57058000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:57056600-57058000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:57056800-57058000	ZNF genes & repeats	Fetal Stomach	stomach
16	chr4:57056800-57059200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:57057000-57076000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:57057000-57076400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:57057600-57058000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:57057600-57062600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:57057600-57065400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:57057600-57077400	Weak transcription	Fetal Brain Female	brain
23	chr4:57057800-57058000	Strong transcription	Fetal Intestine Small	intestine
24	chr4:57057800-57058200	Weak transcription	Fetal Intestine Large	intestine
25	chr4:57057800-57070200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:57057800-57071000	Weak transcription	Brain Germinal Matrix	brain

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