Variant report

Variant	rs71607404
Chromosome Location	chr4:88024333-88024334
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:88016859..88019570-chr4:88023284..88025236,3	MCF-7	breast:
2	chr4:88023345..88024906-chr4:88040563..88042654,2	MCF-7	breast:
3	chr4:88023177..88025115-chr4:88372900..88374503,2	K562	blood:
4	chr4:87854450..87858445-chr4:88020078..88026757,11	MCF-7	breast:
5	chr4:87926830..87929105-chr4:88024011..88025624,2	MCF-7	breast:
6	chr4:88022117..88024925-chr4:88027985..88030710,2	K562	blood:
7	chr4:88013784..88016288-chr4:88023619..88027731,5	MCF-7	breast:
8	chr4:88021442..88026056-chr4:88026505..88030511,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10003331	1.00[ASN][1000 genomes]
rs10015544	1.00[ASN][1000 genomes]
rs10022825	1.00[ASN][1000 genomes]
rs10032200	1.00[ASN][1000 genomes]
rs10050309	1.00[ASN][1000 genomes]
rs1037813	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945520	1.00[ASN][1000 genomes]
rs12508231	1.00[ASN][1000 genomes]
rs13103234	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13108043	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13134084	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012304	1.00[ASN][1000 genomes]
rs17030453	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17604937	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17668731	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17668952	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17703261	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2230858	1.00[ASN][1000 genomes]
rs28495374	1.00[ASN][1000 genomes]
rs28667805	1.00[ASN][1000 genomes]
rs28791499	1.00[ASN][1000 genomes]
rs35658582	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35849753	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs366327	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4079	1.00[ASN][1000 genomes]
rs4305486	1.00[ASN][1000 genomes]
rs56656813	1.00[ASN][1000 genomes]
rs57455613	1.00[ASN][1000 genomes]
rs57954253	1.00[ASN][1000 genomes]
rs58336541	1.00[ASN][1000 genomes]
rs58478399	1.00[ASN][1000 genomes]
rs59395199	1.00[ASN][1000 genomes]
rs59526367	1.00[ASN][1000 genomes]
rs62306540	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817981	1.00[ASN][1000 genomes]
rs6822384	1.00[ASN][1000 genomes]
rs6834947	1.00[ASN][1000 genomes]
rs6846149	1.00[ASN][1000 genomes]
rs6846352	1.00[ASN][1000 genomes]
rs72877916	1.00[ASN][1000 genomes]
rs72877918	1.00[ASN][1000 genomes]
rs73839171	1.00[ASN][1000 genomes]
rs7664479	1.00[ASN][1000 genomes]
rs7668285	1.00[ASN][1000 genomes]
rs7686034	1.00[ASN][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	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv879525	chr4:87964363-88033352	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 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	chr4:87995200-88029200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:87995400-88037800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:88001400-88025200	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:88001800-88025200	Weak transcription	Gastric	stomach
5	chr4:88003400-88028600	Weak transcription	HSMMtube	muscle
6	chr4:88004400-88025200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:88011800-88032800	Weak transcription	Colonic Mucosa	Colon
8	chr4:88014400-88024600	Weak transcription	HSMM	muscle
9	chr4:88014800-88024400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:88014800-88024600	Weak transcription	Stomach Mucosa	stomach
11	chr4:88014800-88024800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:88015200-88024400	Strong transcription	GM12878-XiMat	blood
13	chr4:88015200-88024600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:88015200-88024600	Weak transcription	A549	lung
15	chr4:88015200-88025200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:88015200-88025200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:88015200-88028800	Weak transcription	Aorta	Aorta
18	chr4:88015200-88028800	Weak transcription	Fetal Heart	heart
19	chr4:88015200-88029200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:88015400-88025200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:88015400-88025200	Weak transcription	Esophagus	oesophagus
22	chr4:88015400-88025200	Weak transcription	Left Ventricle	heart
23	chr4:88015400-88025200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:88015600-88026800	Weak transcription	Fetal Lung	lung
25	chr4:88015800-88024800	Weak transcription	HMEC	breast
26	chr4:88015800-88035400	Weak transcription	Right Ventricle	heart
27	chr4:88016000-88024600	Weak transcription	Hela-S3	cervix
28	chr4:88016000-88026400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:88016200-88024400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:88016600-88026800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:88018000-88026600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:88018200-88025200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr4:88018600-88024800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:88018600-88024800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr4:88018600-88025200	Weak transcription	Lung	lung
36	chr4:88018600-88025200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:88018600-88029200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:88018600-88034200	Weak transcription	Fetal Stomach	stomach
39	chr4:88019000-88072200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:88019200-88024600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:88020200-88025400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr4:88020800-88024600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr4:88021000-88029200	Weak transcription	Ovary	ovary
44	chr4:88021000-88034200	Weak transcription	Spleen	Spleen
45	chr4:88021200-88029200	Weak transcription	Brain Hippocampus Middle	brain
46	chr4:88021400-88026400	Weak transcription	Brain Substantia Nigra	brain
47	chr4:88021600-88025200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:88021600-88025200	Weak transcription	Pancreas	Pancrea
49	chr4:88021600-88026400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr4:88021600-88026400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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