Variant report

Variant	rs10212789
Chromosome Location	chr4:151439969-151439970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151435911..151437740-chr4:151439092..151440946,2	K562	blood:
2	chr4:151439292..151441236-chr4:151444878..151447222,2	K562	blood:
3	chr4:151438844..151440792-chr4:151444543..151446378,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10003280	0.83[EUR][1000 genomes]
rs11932768	0.80[EUR][1000 genomes]
rs12233717	0.83[EUR][1000 genomes]
rs13101664	0.88[CEU][hapmap]
rs13113682	0.83[EUR][1000 genomes]
rs13137465	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138244	0.83[EUR][1000 genomes]
rs4696475	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv3445246	chr4:151422396-151447936	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1018942	chr4:151423295-151556444	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv537301	chr4:151423295-151556444	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10212789	LRBA	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151385400-151442200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr4:151409000-151456600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:151410000-151444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:151422800-151474600	Weak transcription	Primary B cells from cord blood	blood
5	chr4:151433800-151444200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:151435800-151452600	Weak transcription	Primary T cells from cord blood	blood
7	chr4:151436000-151443800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:151436200-151452000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:151439000-151440600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:151439200-151440200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:151439200-151440200	Enhancers	Hela-S3	cervix
12	chr4:151439200-151440200	Enhancers	HMEC	breast
13	chr4:151439200-151440200	Enhancers	NHEK	skin
14	chr4:151439200-151441200	Enhancers	A549	lung
15	chr4:151439400-151440000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:151439400-151440200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:151439400-151440200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:151439400-151440200	Enhancers	NH-A	brain
19	chr4:151439400-151440400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:151439400-151441000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:151439400-151441000	Enhancers	Rectal Smooth Muscle	rectum
22	chr4:151439600-151440000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:151439600-151440000	Enhancers	Fetal Intestine Small	intestine
24	chr4:151439600-151440200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:151439600-151440200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:151439600-151440200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:151439600-151440200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr4:151439600-151440400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:151439600-151440400	Enhancers	HUVEC	blood vessel
30	chr4:151439800-151440000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:151439800-151440000	Enhancers	HSMMtube	muscle
32	chr4:151439800-151440200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:151439800-151440200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr4:151439800-151440200	Enhancers	K562	blood

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