Variant report

Variant	rs12724134
Chromosome Location	chr1:95075566-95075567
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95075515..95077960-chr1:95084097..95086216,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12738550	0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17403082	0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17411251	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17411335	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17411572	0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35415294	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3814015	0.83[AFR][1000 genomes]
rs4847206	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4847316	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4847322	0.84[AFR][1000 genomes]
rs55923008	0.84[AFR][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	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv871279	chr1:95028981-95083836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1804937	chr1:95051930-95081587	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95061400-95076800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:95065200-95081000	Enhancers	Stomach Mucosa	stomach
3	chr1:95065400-95081400	Enhancers	Fetal Intestine Small	intestine
4	chr1:95065600-95087200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:95068000-95078200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:95069400-95077800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:95069600-95078200	Weak transcription	Dnd41	blood
8	chr1:95070400-95078800	Enhancers	Fetal Intestine Large	intestine
9	chr1:95071800-95076800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:95072000-95077400	Weak transcription	Small Intestine	intestine
11	chr1:95072200-95078800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:95072200-95080200	Weak transcription	Primary B cells from cord blood	blood
13	chr1:95073200-95077000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:95073200-95077800	Weak transcription	NHEK	skin
15	chr1:95073600-95075600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:95073600-95076800	Weak transcription	Lung	lung
17	chr1:95073800-95075600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:95073800-95075600	Enhancers	Fetal Stomach	stomach
19	chr1:95073800-95077600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:95074000-95076000	Enhancers	K562	blood
21	chr1:95074000-95077400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:95074200-95076800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:95074200-95076800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:95074400-95075600	Enhancers	HepG2	liver
25	chr1:95074400-95076000	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:95074400-95076800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:95074400-95077000	Weak transcription	HMEC	breast
28	chr1:95074600-95076800	Weak transcription	Gastric	stomach
29	chr1:95074600-95076800	Weak transcription	A549	lung
30	chr1:95075000-95076800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:95075000-95076800	Weak transcription	Pancreas	Pancrea
32	chr1:95075000-95077200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:95075000-95082400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:95075000-95082400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:95075200-95075600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:95075200-95076600	Weak transcription	Colonic Mucosa	Colon
37	chr1:95075200-95077400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:95075200-95088400	Weak transcription	Fetal Lung	lung
39	chr1:95075400-95075600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr1:95075400-95075600	Enhancers	Adipose Nuclei	Adipose
41	chr1:95075400-95076600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:95075400-95078000	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:95075400-95078000	Weak transcription	NHLF	lung
44	chr1:95075400-95081600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:95075400-95082000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:95075400-95082000	Weak transcription	NH-A	brain
47	chr1:95075400-95082800	Weak transcription	Placenta	Placenta

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