Variant report

Variant	rs258374
Chromosome Location	chr5:14687362-14687363
allele	C/G
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	chr5:14684890..14686885-chr5:14687284..14690002,2	K562	blood:
2	chr5:14680121..14683231-chr5:14683255..14687909,6	K562	blood:
3	chr5:14663633..14666342-chr5:14685335..14688986,4	K562	blood:
4	chr5:14686254..14688718-chr5:14716713..14719728,4	MCF-7	breast:
5	chr5:14686822..14687524-chr5:14944560..14945527,2	MCF-7	breast:
6	chr5:14676057..14679140-chr5:14685334..14687746,3	K562	blood:
7	chr5:14674501..14677095-chr5:14686339..14688159,2	K562	blood:
8	chr5:14675013..14677117-chr5:14685914..14688282,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154124	Chromatin interaction
ENSG00000154122	Chromatin interaction
ENSG00000261360	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs13189930	0.87[JPT][hapmap];0.88[EUR][1000 genomes]
rs149493	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs153829	0.94[JPT][hapmap]
rs153830	0.94[JPT][hapmap]
rs1875513	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2455402	0.92[JPT][hapmap]
rs250439	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs258290	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs25943	0.82[YRI][hapmap]
rs25945	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs25951	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs25952	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs25983	0.83[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs25986	0.93[JPT][hapmap]
rs25987	0.93[JPT][hapmap]
rs25988	0.93[JPT][hapmap]
rs25992	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs26307	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs27356	0.87[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs27882	0.84[ASN][1000 genomes]
rs27911	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs28004	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs31919	0.85[ASN][1000 genomes]
rs31920	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs31921	0.84[ASN][1000 genomes]
rs31922	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs31923	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs31925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs31926	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs31928	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs31929	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs31930	0.84[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs31968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3853119	0.87[ASN][1000 genomes]
rs3866215	0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs40578	0.85[ASN][1000 genomes]
rs42358	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs42410	0.84[ASN][1000 genomes]
rs42681	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs456180	1.00[JPT][hapmap]
rs466880	0.93[JPT][hapmap]
rs4702043	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6554856	0.94[JPT][hapmap]
rs6872954	0.94[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs745328	0.94[JPT][hapmap]
rs95492	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs258374	FAM105B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14666400-14688200	Weak transcription	Ovary	ovary
2	chr5:14666600-14688200	Weak transcription	Brain Germinal Matrix	brain
3	chr5:14667000-14690400	Weak transcription	Fetal Brain Male	brain
4	chr5:14672200-14690400	Strong transcription	Hela-S3	cervix
5	chr5:14673800-14690000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:14674000-14712800	Strong transcription	Fetal Intestine Large	intestine
7	chr5:14674600-14688400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:14674600-14695600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:14675200-14695800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:14676800-14687800	Weak transcription	Fetal Kidney	kidney
11	chr5:14676800-14690600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:14676800-14705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:14677000-14688400	Weak transcription	Stomach Mucosa	stomach
14	chr5:14677000-14695200	Strong transcription	K562	blood
15	chr5:14677600-14689800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:14677600-14705600	Strong transcription	Dnd41	blood
17	chr5:14677800-14704000	Strong transcription	HepG2	liver
18	chr5:14678000-14689800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:14678000-14690200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr5:14678000-14690200	Strong transcription	Primary B cells from cord blood	blood
21	chr5:14678200-14689200	Strong transcription	Fetal Intestine Small	intestine
22	chr5:14678200-14690400	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr5:14678200-14690400	Strong transcription	Fetal Stomach	stomach
24	chr5:14678600-14704200	Strong transcription	Fetal Thymus	thymus
25	chr5:14679200-14689600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:14680400-14688400	Strong transcription	Lung	lung
27	chr5:14682000-14687400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:14682800-14687600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:14683200-14688200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:14683400-14687400	Weak transcription	HSMMtube	muscle
31	chr5:14683800-14687400	Weak transcription	HUVEC	blood vessel
32	chr5:14683800-14687800	Weak transcription	Colon Smooth Muscle	Colon
33	chr5:14684400-14687400	Genic enhancers	Left Ventricle	heart
34	chr5:14684600-14726200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr5:14685200-14688200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:14685200-14688200	Weak transcription	Colonic Mucosa	Colon
37	chr5:14685200-14688200	Weak transcription	Esophagus	oesophagus
38	chr5:14685200-14688200	Weak transcription	Gastric	stomach
39	chr5:14685200-14688200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:14685400-14687400	Weak transcription	Placenta	Placenta
41	chr5:14686000-14687400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:14686000-14690200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:14686200-14687600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:14686200-14687600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:14686200-14687600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:14686200-14687800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:14686200-14687800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr5:14686200-14688200	Weak transcription	Brain Angular Gyrus	brain
49	chr5:14686200-14688200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:14686200-14688200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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