Variant report

Variant	rs1388969
Chromosome Location	chr1:224253197-224253198
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	chr1:224252218..224254539-chr1:224278231..224280105,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6604888	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6604889	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6679241	1.00[YRI][hapmap];0.83[AFR][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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224246400-224253400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:224248000-224253200	Weak transcription	HUVEC	blood vessel
3	chr1:224249600-224255200	Weak transcription	K562	blood
4	chr1:224249600-224256000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:224249800-224253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:224250600-224257800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr1:224251000-224253800	Enhancers	Fetal Intestine Large	intestine
8	chr1:224251400-224253800	Enhancers	Fetal Intestine Small	intestine
9	chr1:224251400-224253800	Enhancers	Stomach Mucosa	stomach
10	chr1:224252000-224254400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr1:224252000-224256200	Enhancers	NHDF-Ad	bronchial
12	chr1:224252000-224256600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:224252400-224253200	Weak transcription	HMEC	breast
14	chr1:224252400-224253400	Enhancers	Hela-S3	cervix
15	chr1:224252400-224253600	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:224252400-224253800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:224252400-224256200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:224252600-224254200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:224252600-224255000	Weak transcription	HSMM	muscle
20	chr1:224252600-224255400	Weak transcription	Small Intestine	intestine
21	chr1:224252600-224256200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:224252600-224258000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:224252800-224253200	Enhancers	Pancreas	Pancrea
24	chr1:224252800-224253400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr1:224252800-224253600	Enhancers	Osteobl	bone
26	chr1:224252800-224253800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:224253000-224253600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr1:224253000-224253600	Enhancers	NH-A	brain
29	chr1:224253000-224253600	Enhancers	NHEK	skin

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