Variant report

Variant	rs13114859
Chromosome Location	chr4:57049810-57049811
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56995263..56996196-chr4:57049303..57050160,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10434443	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13104333	0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13127290	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13139472	0.81[EUR][1000 genomes]
rs13142172	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17744943	0.88[EUR][1000 genomes]
rs34156343	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[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	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	nsv1007114	chr4:56942917-57055381	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57016800-57054000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:57023000-57076000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:57042000-57052600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:57043600-57053600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:57045400-57053400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:57045800-57052400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:57046600-57053400	Weak transcription	Fetal Intestine Large	intestine
8	chr4:57046800-57051000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:57047400-57051000	Strong transcription	Brain Germinal Matrix	brain
10	chr4:57047600-57051000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:57047600-57056600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:57047800-57053400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:57048000-57050600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:57048000-57050800	Strong transcription	Fetal Intestine Small	intestine
15	chr4:57048000-57053000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:57048000-57053400	Weak transcription	Fetal Kidney	kidney
17	chr4:57048400-57053000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:57048600-57050000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr4:57048800-57052000	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:57048800-57054600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:57048800-57056800	Weak transcription	Fetal Stomach	stomach
22	chr4:57049400-57050400	Enhancers	Primary B cells from cord blood	blood
23	chr4:57049600-57050000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:57049600-57050000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:57049600-57050000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:57049600-57050000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:57049600-57050000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:57049600-57050000	Enhancers	Fetal Brain Male	brain
29	chr4:57049600-57050200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:57049600-57050200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:57049600-57050200	Enhancers	GM12878-XiMat	blood
32	chr4:57049600-57050200	Enhancers	HepG2	liver
33	chr4:57049600-57050600	Enhancers	Ovary	ovary
34	chr4:57049600-57050800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:57049600-57050800	Enhancers	Primary B cells from peripheral blood	blood
36	chr4:57049600-57050800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr4:57049800-57050000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:57049800-57050000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:57049800-57050000	Enhancers	Duodenum Mucosa	Duodenum
40	chr4:57049800-57050000	Enhancers	Pancreas	Pancrea
41	chr4:57049800-57050000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr4:57049800-57050000	Enhancers	K562	blood
43	chr4:57049800-57050200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:57049800-57050200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr4:57049800-57050200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr4:57049800-57051000	Strong transcription	Fetal Brain Female	brain
47	chr4:57049800-57052200	Weak transcription	Esophagus	oesophagus
48	chr4:57049800-57053200	Weak transcription	Fetal Lung	lung

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