Variant report

Variant	rs6897663
Chromosome Location	chr5:43151611-43151612
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43149407..43153525-chr5:43154850..43159311,5	K562	blood:
2	chr5:43145346..43147857-chr5:43150942..43153155,3	MCF-7	breast:
3	chr5:43119555..43121292-chr5:43149907..43152900,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1001718	1.00[AMR][1000 genomes]
rs10070393	1.00[AMR][1000 genomes]
rs28659803	1.00[AMR][1000 genomes]
rs3849700	1.00[AMR][1000 genomes]
rs55730625	1.00[AMR][1000 genomes]
rs60384612	1.00[AMR][1000 genomes]
rs6859504	1.00[AMR][1000 genomes]
rs6860747	1.00[AMR][1000 genomes]
rs6864556	1.00[AMR][1000 genomes]
rs6869639	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6875245	1.00[AMR][1000 genomes]
rs6877778	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6879509	1.00[AMR][1000 genomes]
rs6881357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6886169	1.00[AMR][1000 genomes]
rs6887110	1.00[AMR][1000 genomes]
rs6891509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6891660	1.00[AMR][1000 genomes]
rs6895975	1.00[AMR][1000 genomes]
rs73754524	1.00[AMR][1000 genomes]
rs73754532	1.00[AMR][1000 genomes]
rs747118	1.00[AMR][1000 genomes]
rs747119	1.00[AMR][1000 genomes]
rs7703982	1.00[AMR][1000 genomes]
rs7710205	1.00[AMR][1000 genomes]
rs7717370	1.00[AMR][1000 genomes]
rs7737740	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43122600-43156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:43122600-43163400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:43122800-43154600	Weak transcription	Aorta	Aorta
4	chr5:43122800-43156400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
6	chr5:43124000-43153000	Weak transcription	Psoas Muscle	Psoas
7	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
8	chr5:43124400-43154600	Weak transcription	Fetal Heart	heart
9	chr5:43124400-43154800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:43126600-43154800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:43127600-43178000	Strong transcription	Dnd41	blood
12	chr5:43128000-43154600	Weak transcription	Brain Substantia Nigra	brain
13	chr5:43128200-43156000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:43128200-43161000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:43128400-43154600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:43128400-43161400	Weak transcription	HSMMtube	muscle
17	chr5:43128600-43154400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:43128600-43155400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:43129000-43161400	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:43130200-43156200	Weak transcription	Gastric	stomach
21	chr5:43131000-43159800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:43133000-43152400	Weak transcription	Spleen	Spleen
23	chr5:43133000-43161400	Weak transcription	Esophagus	oesophagus
24	chr5:43133200-43161400	Weak transcription	Fetal Brain Male	brain
25	chr5:43134000-43154600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr5:43134600-43155000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:43135400-43156400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:43137200-43163400	Weak transcription	Fetal Kidney	kidney
29	chr5:43137400-43152400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:43137800-43161000	Weak transcription	HSMM	muscle
31	chr5:43138200-43159000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr5:43140400-43154600	Weak transcription	Brain Angular Gyrus	brain
33	chr5:43140400-43155400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:43140600-43154600	Weak transcription	Brain Anterior Caudate	brain
35	chr5:43140800-43155200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:43140800-43155800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr5:43141200-43153400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:43141800-43154600	Weak transcription	Left Ventricle	heart
39	chr5:43141800-43161400	Weak transcription	HUVEC	blood vessel
40	chr5:43142000-43151800	Weak transcription	HepG2	liver
41	chr5:43142200-43151800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:43142200-43161400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:43143000-43161400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:43143200-43152200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr5:43143400-43178200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:43143800-43155600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:43143800-43161400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr5:43143800-43161400	Weak transcription	NHEK	skin
49	chr5:43144000-43152800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:43144600-43159600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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