Variant report

Variant	rs7733386
Chromosome Location	chr5:128454880-128454881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:128429580..128432261-chr5:128453645..128456486,2	MCF-7	breast:
2	chr5:128429165..128432020-chr5:128454173..128455857,2	MCF-7	breast:
3	chr5:128437674..128440234-chr5:128454579..128456642,2	K562	blood:
4	chr5:128453538..128456511-chr5:128465200..128466831,2	MCF-7	breast:
5	chr5:128448676..128453642-chr5:128454488..128460392,5	K562	blood:

Variant related genes	Relation type
ENSG00000066583	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10060414	1.00[AMR][1000 genomes]
rs10478830	1.00[AMR][1000 genomes]
rs6891218	1.00[AMR][1000 genomes]
rs73232500	1.00[AMR][1000 genomes]
rs73234005	1.00[AMR][1000 genomes]
rs7730760	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv882842	chr5:128301971-128552706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv599701	chr5:128328165-128773052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv882847	chr5:128368505-128665719	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv882848	chr5:128378225-128516629	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882849	chr5:128446692-128501738	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128431400-128457400	Weak transcription	Lung	lung
2	chr5:128434000-128455600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:128434000-128458400	Weak transcription	Esophagus	oesophagus
4	chr5:128434400-128461800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:128434800-128461600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:128435200-128462200	Weak transcription	Pancreas	Pancrea
7	chr5:128439600-128456200	Weak transcription	Spleen	Spleen
8	chr5:128443000-128459800	Weak transcription	Fetal Kidney	kidney
9	chr5:128444000-128455000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:128444000-128460200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:128444000-128461600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:128444000-128461600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:128444000-128462000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:128444000-128462400	Weak transcription	Gastric	stomach
15	chr5:128444600-128461600	Weak transcription	Fetal Intestine Small	intestine
16	chr5:128445000-128455400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:128446400-128456000	Weak transcription	Ovary	ovary
18	chr5:128447400-128461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:128447600-128455600	Weak transcription	GM12878-XiMat	blood
20	chr5:128448800-128461400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:128448800-128461600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:128448800-128461600	Weak transcription	Dnd41	blood
23	chr5:128449000-128461400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr5:128449400-128457000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:128449400-128461200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:128449600-128460200	Weak transcription	Primary B cells from cord blood	blood
27	chr5:128452000-128460000	Weak transcription	Liver	Liver
28	chr5:128453000-128460600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:128453000-128461600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:128453200-128461600	Weak transcription	Fetal Intestine Large	intestine
31	chr5:128453200-128462600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:128453400-128460000	Weak transcription	Left Ventricle	heart
33	chr5:128453800-128461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:128454000-128462200	Weak transcription	Fetal Stomach	stomach
35	chr5:128454200-128455000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:128454200-128455000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:128454200-128461600	Weak transcription	Adipose Nuclei	Adipose
38	chr5:128454200-128462000	Weak transcription	K562	blood
39	chr5:128454200-128462400	Weak transcription	Fetal Heart	heart
40	chr5:128454400-128455000	Enhancers	NHEK	skin
41	chr5:128454600-128457000	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:128454800-128461600	Weak transcription	Primary T cells from cord blood	blood

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