Variant report

Variant	rs4991951
Chromosome Location	chr5:43614968-43614969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43557007..43560103-chr5:43613245..43616265,3	K562	blood:
2	chr5:43614462..43616914-chr5:43628223..43629957,2	K562	blood:
3	chr5:43601763..43605743-chr5:43610640..43615837,7	K562	blood:
4	chr5:43614268..43615801-chr5:43616517..43619358,2	K562	blood:
5	chr5:43556501..43559136-chr5:43614541..43617209,2	MCF-7	breast:
6	chr5:43609541..43612732-chr5:43613991..43616836,3	MCF-7	breast:
7	chr5:43613880..43616676-chr5:43619448..43622710,3	K562	blood:

Variant related genes	Relation type
ENSG00000112992	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000248092	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10042992	0.84[ASN][1000 genomes]
rs10057103	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10065863	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1072745	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1072746	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13189004	0.83[ASN][1000 genomes]
rs13360902	0.81[ASN][1000 genomes]
rs4367306	0.81[AFR][1000 genomes]
rs4513704	0.81[AFR][1000 genomes]
rs4610465	0.84[ASN][1000 genomes]
rs4866752	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6451718	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7701429	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7708072	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7710125	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7737793	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43604200-43631200	Weak transcription	A549	lung
2	chr5:43604400-43619400	Weak transcription	Placenta	Placenta
3	chr5:43604400-43619600	Weak transcription	HMEC	breast
4	chr5:43604400-43631200	Weak transcription	Pancreas	Pancrea
5	chr5:43604400-43635000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:43604400-43649200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:43604400-43649200	Weak transcription	Esophagus	oesophagus
8	chr5:43604400-43660600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:43604600-43624400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:43604600-43649800	Weak transcription	Colonic Mucosa	Colon
11	chr5:43604800-43630200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:43604800-43630800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:43604800-43635400	Weak transcription	Gastric	stomach
14	chr5:43604800-43635400	Weak transcription	Spleen	Spleen
15	chr5:43604800-43649800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:43605000-43631200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:43605000-43631400	Weak transcription	Lung	lung
18	chr5:43605000-43656000	Weak transcription	Small Intestine	intestine
19	chr5:43605200-43618400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:43605800-43625200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:43606400-43633600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr5:43606800-43648200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:43607000-43619600	Weak transcription	NHEK	skin
24	chr5:43607800-43624200	Strong transcription	Primary T cells from cord blood	blood
25	chr5:43607800-43628200	Weak transcription	Fetal Intestine Small	intestine
26	chr5:43608200-43615000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr5:43608200-43621400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:43608400-43617000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr5:43608400-43624600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:43608400-43633600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr5:43608400-43640600	Strong transcription	Dnd41	blood
32	chr5:43608600-43617000	Strong transcription	Primary B cells from cord blood	blood
33	chr5:43608600-43620200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr5:43608600-43620200	Strong transcription	NHDF-Ad	bronchial
35	chr5:43608600-43624200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:43608600-43624400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:43608600-43624600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:43608600-43624600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:43608800-43620200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr5:43608800-43624800	Strong transcription	Fetal Thymus	thymus
41	chr5:43609000-43615600	Weak transcription	HUVEC	blood vessel
42	chr5:43609200-43615000	Strong transcription	Adipose Nuclei	Adipose
43	chr5:43609200-43615600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:43609200-43616400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:43609200-43616600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:43609200-43619000	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr5:43609200-43620200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:43609200-43620200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr5:43609200-43620200	Strong transcription	GM12878-XiMat	blood
50	chr5:43609200-43620400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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