Variant report

Variant	rs6815917
Chromosome Location	chr4:85864574-85864575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:85857948..85860557-chr4:85862561..85864808,2	K562	blood:
2	chr4:85860640..85862809-chr4:85863812..85866329,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11097028	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11730981	0.80[EUR][1000 genomes]
rs12500519	0.87[EUR][1000 genomes]
rs12501525	0.90[AMR][1000 genomes]
rs12502409	0.80[EUR][1000 genomes]
rs12502559	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12503215	0.81[EUR][1000 genomes]
rs12503330	0.86[EUR][1000 genomes]
rs12506456	0.81[EUR][1000 genomes]
rs12510410	0.82[EUR][1000 genomes]
rs12648852	0.80[EUR][1000 genomes]
rs13109918	0.80[EUR][1000 genomes]
rs13118671	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13125323	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13139541	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13141072	0.86[EUR][1000 genomes]
rs1484661	0.89[AMR][1000 genomes]
rs1508670	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17009317	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17009334	0.90[EUR][1000 genomes]
rs17009341	0.80[EUR][1000 genomes]
rs35190829	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35892581	0.92[EUR][1000 genomes]
rs4376130	0.81[EUR][1000 genomes]
rs4383611	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4590017	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4624645	0.81[EUR][1000 genomes]
rs55871210	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55912355	0.90[EUR][1000 genomes]
rs56094216	0.89[EUR][1000 genomes]
rs58074983	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6531777	0.82[EUR][1000 genomes]
rs6531783	0.91[EUR][1000 genomes]
rs66965560	0.84[EUR][1000 genomes]
rs67624868	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6820517	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6829807	0.81[EUR][1000 genomes]
rs6847564	0.81[EUR][1000 genomes]
rs6847811	0.82[EUR][1000 genomes]
rs71631375	0.89[EUR][1000 genomes]
rs72664928	0.86[EUR][1000 genomes]
rs72664957	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7661609	0.81[EUR][1000 genomes]
rs7682896	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7690054	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7692223	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7694949	0.81[EUR][1000 genomes]
rs7695054	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7699226	0.81[EUR][1000 genomes]
rs9684737	0.81[EUR][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	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv508295	chr4:85822802-85885027	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85798800-85873200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:85809000-85872800	Weak transcription	A549	lung
3	chr4:85829200-85866200	Weak transcription	Spleen	Spleen
4	chr4:85845600-85882800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:85849200-85876000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:85849600-85869600	Weak transcription	Aorta	Aorta
7	chr4:85851200-85876000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:85853400-85866200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:85853400-85868800	Weak transcription	Placenta	Placenta
10	chr4:85858600-85868800	Weak transcription	Ovary	ovary
11	chr4:85859000-85865600	Weak transcription	Left Ventricle	heart
12	chr4:85859000-85865600	Weak transcription	Pancreas	Pancrea
13	chr4:85859000-85869600	Weak transcription	Psoas Muscle	Psoas
14	chr4:85859200-85866200	Weak transcription	Right Ventricle	heart
15	chr4:85860600-85869200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:85860600-85869400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:85860600-85872800	Weak transcription	Esophagus	oesophagus
18	chr4:85860600-85877000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:85860800-85872800	Weak transcription	NH-A	brain
20	chr4:85861200-85866200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:85861200-85866200	Weak transcription	HSMMtube	muscle
22	chr4:85861200-85872400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:85861200-85873600	Weak transcription	HUVEC	blood vessel
24	chr4:85861400-85866000	Weak transcription	Osteobl	bone
25	chr4:85861400-85869200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:85861400-85869200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:85862200-85864600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:85862400-85864800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr4:85862800-85865600	Weak transcription	NHDF-Ad	bronchial
30	chr4:85862800-85866200	Weak transcription	Fetal Heart	heart
31	chr4:85863200-85869200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:85863400-85872600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:85863600-85864800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:85863600-85864800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:85863800-85864600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr4:85863800-85867400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:85864000-85864600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
38	chr4:85864000-85865200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:85864000-85866200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:85864200-85864600	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr4:85864200-85865000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:85864200-85868800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:85864200-85872800	Weak transcription	HSMM	muscle
44	chr4:85864400-85866200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr4:85864400-85866600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:85864400-85869200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:85864400-85869600	Weak transcription	Fetal Lung	lung
48	chr4:85864400-85873200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:85864400-85876400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:85864400-85877200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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