Variant report

Variant	rs2347601
Chromosome Location	chr4:111015186-111015187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:111014275..111015870-chr4:111022148..111024415,2	K562	blood:
2	chr4:111014249..111016339-chr4:111117678..111120589,2	K562	blood:

Variant related genes	Relation type
ENSG00000170522	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10005776	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10024683	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1003908	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11731407	0.94[EUR][1000 genomes]
rs2005701	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2040710	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2347600	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2347602	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28694077	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28706838	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28712862	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28784911	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34392886	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4698807	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6858635	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6858695	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr4:110993200-111015400	Weak transcription	Psoas Muscle	Psoas
2	chr4:110995000-111018600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:111004600-111026000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:111004600-111027800	Weak transcription	Esophagus	oesophagus
5	chr4:111006600-111026000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:111006800-111025800	Weak transcription	Liver	Liver
7	chr4:111008400-111026000	Weak transcription	Fetal Brain Female	brain
8	chr4:111009800-111016600	Weak transcription	Fetal Heart	heart
9	chr4:111010000-111027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:111010000-111028000	Weak transcription	HepG2	liver
11	chr4:111010200-111017600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:111010400-111024800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:111010800-111023400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:111011000-111026000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:111011000-111040200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:111011400-111024400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:111011400-111025800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:111011600-111017000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:111012800-111020800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:111012800-111025800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:111012800-111027800	Weak transcription	Fetal Intestine Small	intestine
22	chr4:111013000-111024400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:111013000-111040400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:111013200-111024400	Weak transcription	Dnd41	blood
25	chr4:111013400-111017200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:111013400-111017600	Weak transcription	HUVEC	blood vessel
27	chr4:111013400-111023200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:111013400-111024400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:111013400-111025800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:111013400-111027200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:111013600-111027400	Weak transcription	NH-A	brain
32	chr4:111013600-111027600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:111013600-111027600	Weak transcription	NHLF	lung
34	chr4:111013600-111040400	Weak transcription	Fetal Kidney	kidney
35	chr4:111013800-111020600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:111013800-111022800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:111013800-111025600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:111013800-111025800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:111014000-111017200	Weak transcription	HSMMtube	muscle
40	chr4:111014000-111025800	Weak transcription	HMEC	breast
41	chr4:111014200-111020600	Weak transcription	NHEK	skin
42	chr4:111014400-111017400	Weak transcription	Brain Germinal Matrix	brain
43	chr4:111014400-111020600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:111014400-111025200	Weak transcription	NHDF-Ad	bronchial
45	chr4:111014600-111016800	Weak transcription	HSMM	muscle
46	chr4:111014600-111017800	Strong transcription	K562	blood
47	chr4:111014800-111026000	Weak transcription	Osteobl	bone
48	chr4:111015000-111016000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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