Variant report

Variant	rs6870955
Chromosome Location	chr5:118416589-118416590
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118415616..118417740-chr5:118600067..118602902,2	MCF-7	breast:
2	chr5:118405803..118408184-chr5:118416454..118418702,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172869	Chromatin interaction
ENSG00000249494	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1375163	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17144918	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17144962	1.00[AMR][1000 genomes]
rs17144994	1.00[AMR][1000 genomes]
rs1979092	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1979093	0.86[AFR][1000 genomes]
rs2135054	1.00[AMR][1000 genomes]
rs2377138	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2404394	1.00[AMR][1000 genomes]
rs28581500	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2889564	1.00[AMR][1000 genomes]
rs36086810	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36116741	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59926024	1.00[AMR][1000 genomes]
rs60051938	1.00[AMR][1000 genomes]
rs6867580	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6869894	0.85[AFR][1000 genomes]
rs6870423	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6870607	1.00[AMR][1000 genomes]
rs6871228	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6871822	0.92[AFR][1000 genomes]
rs6888039	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6889921	1.00[AMR][1000 genomes]
rs6893078	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72784072	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244805	1.00[AMR][1000 genomes]
rs73247087	1.00[AMR][1000 genomes]
rs73247090	1.00[AMR][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	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3511406	chr5:118409810-118459495	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3511407	chr5:118409863-118459482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118407600-118423600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:118407800-118421600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:118407800-118456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:118408400-118451800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:118409000-118420400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:118409000-118424000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:118409000-118435000	Weak transcription	Lung	lung
8	chr5:118409000-118471200	Weak transcription	Gastric	stomach
9	chr5:118409200-118416600	Weak transcription	Brain Angular Gyrus	brain
10	chr5:118409200-118416600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:118409200-118418000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:118409200-118419400	Weak transcription	Fetal Stomach	stomach
13	chr5:118409200-118424000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:118409400-118421000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:118409400-118435000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:118409800-118423200	Weak transcription	Fetal Intestine Large	intestine
17	chr5:118410400-118419600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:118410600-118418000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:118410600-118418400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:118410800-118418400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr5:118410800-118421200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:118411200-118435000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:118412000-118435000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:118412200-118416600	Weak transcription	Brain Anterior Caudate	brain
25	chr5:118412200-118432800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr5:118412400-118424000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr5:118412400-118435000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr5:118413600-118417200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:118414000-118423800	Weak transcription	Liver	Liver
31	chr5:118414000-118425800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr5:118414400-118417000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:118414400-118417200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:118414400-118472200	Weak transcription	Pancreas	Pancrea
35	chr5:118414600-118416800	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr5:118414800-118416800	Enhancers	Brain Substantia Nigra	brain
37	chr5:118415000-118416800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr5:118415000-118417000	Enhancers	Primary B cells from peripheral blood	blood
39	chr5:118415000-118417200	Enhancers	NHDF-Ad	bronchial
40	chr5:118415000-118417600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:118415000-118418000	Weak transcription	Fetal Intestine Small	intestine
42	chr5:118415000-118421400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:118415000-118426800	Weak transcription	Fetal Lung	lung
44	chr5:118415000-118435000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr5:118415200-118416600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:118415200-118416600	Weak transcription	Stomach Mucosa	stomach
47	chr5:118415200-118416800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr5:118415200-118417600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:118415200-118417600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr5:118415200-118418000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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