Variant report

Variant	rs72959811
Chromosome Location	chr4:151503872-151503873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:151502161-151505676	IMR90	lung:	n/a	n/a
2	SUZ12	chr4:151503416-151505330	NT2-D1	testis:	n/a	n/a
3	MYC	chr4:151503814-151504138	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr4:151502343-151506138	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr4:151499806-151506108	H1-neurons	neurons:	n/a	n/a
6	MXI1	chr4:151502292-151505889	SK-N-SH	brain:	n/a	n/a
7	SIN3A	chr4:151502749-151505409	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr4:151503424-151505364	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151494137..151496884-chr4:151503865..151506422,4	K562	blood:
2	chr4:151495333..151496884-chr4:151503356..151505383,3	K562	blood:

Variant related genes	Relation type
LRBA	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72957893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959814	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961844	1.00[AMR][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	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
6	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
7	nsv4547	chr4:151486280-151531479	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151486600-151510400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:151495200-151504000	Weak transcription	NHEK	skin
4	chr4:151497600-151535400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:151499000-151513000	Active TSS	Colon Smooth Muscle	Colon
6	chr4:151499000-151513200	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr4:151499200-151504000	Active TSS	Rectal Smooth Muscle	rectum
8	chr4:151499800-151506000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr4:151500000-151543400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:151500800-151505400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:151500800-151505600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr4:151500800-151511800	Active TSS	Osteobl	bone
13	chr4:151500800-151520000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:151501000-151505200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:151501200-151504000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:151501200-151504000	Weak transcription	Gastric	stomach
17	chr4:151501200-151504000	Weak transcription	Pancreas	Pancrea
18	chr4:151501200-151506400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:151501200-151559800	Weak transcription	Ovary	ovary
20	chr4:151501400-151504000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:151501400-151504000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:151501400-151504000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:151501400-151504000	Weak transcription	Psoas Muscle	Psoas
24	chr4:151501400-151504000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:151501400-151504000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:151501400-151504000	Weak transcription	Spleen	Spleen
27	chr4:151501400-151504000	Weak transcription	HSMM	muscle
28	chr4:151501400-151504200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:151501400-151504200	Weak transcription	Brain Anterior Caudate	brain
30	chr4:151501400-151504200	Weak transcription	Lung	lung
31	chr4:151501400-151504200	Weak transcription	NHLF	lung
32	chr4:151501400-151506000	Strong transcription	Primary T cells from cord blood	blood
33	chr4:151501400-151514800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr4:151501600-151504000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:151501600-151504200	Weak transcription	HSMMtube	muscle
36	chr4:151501600-151504400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:151501800-151504000	Active TSS	Fetal Intestine Large	intestine
38	chr4:151501800-151504600	Active TSS	NH-A	brain
39	chr4:151501800-151512400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:151502200-151507800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr4:151502400-151505000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr4:151502400-151505600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
43	chr4:151502400-151506000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr4:151502600-151504000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:151502600-151504000	Active TSS	Duodenum Mucosa	Duodenum
46	chr4:151502600-151505600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr4:151502600-151505600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr4:151502600-151505600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
49	chr4:151502600-151507600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:151502800-151504000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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