Variant report

Variant	rs1395335
Chromosome Location	chr5:58864777-58864778
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	chr5:58858064..58860308-chr5:58864549..58867326,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10059809	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10065078	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1395336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1395337	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs294501	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs296406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs37579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40215	0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs6858964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6890180	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs697076	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs702544	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv462189	chr5:58830145-58879822	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv598255	chr5:58830145-58879822	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58856600-58865400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:58859200-58883400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:58859400-58865200	Weak transcription	Brain Substantia Nigra	brain
4	chr5:58859400-58870400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:58859400-58871600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:58859400-58884000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:58859600-58864800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:58859800-58865400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:58859800-58873800	Weak transcription	HSMM	muscle
10	chr5:58860000-58866200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:58860200-58873600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:58860400-58865600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:58860800-58865000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:58861000-58870400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:58861800-58873000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:58861800-58874600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:58862200-58865000	Weak transcription	HUVEC	blood vessel
18	chr5:58862400-58865400	Weak transcription	Psoas Muscle	Psoas
19	chr5:58862600-58865000	Weak transcription	Hela-S3	cervix
20	chr5:58862600-58865400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:58862600-58867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:58862600-58874200	Weak transcription	Fetal Brain Male	brain
23	chr5:58863000-58870200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr5:58863200-58868000	Genic enhancers	A549	lung
25	chr5:58863200-58878400	Weak transcription	Stomach Mucosa	stomach
26	chr5:58863800-58865000	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:58864000-58865000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:58864000-58867400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:58864200-58865000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:58864400-58865600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:58864600-58865200	Weak transcription	Brain Anterior Caudate	brain
32	chr5:58864600-58867200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:58864600-58867400	Enhancers	HUES64 Cell Line	embryonic stem cell

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