Variant report

Variant	rs31919
Chromosome Location	chr5:14691586-14691587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14685322..14687229-chr5:14691239..14694070,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10062487	0.88[EUR][1000 genomes]
rs10078335	0.90[EUR][1000 genomes]
rs13189930	0.87[JPT][hapmap]
rs149181	0.83[ASN][1000 genomes]
rs149493	0.85[ASN][1000 genomes]
rs149617	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs152788	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs153829	0.92[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs153830	0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs166127	0.89[ASN][1000 genomes]
rs183681	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1875513	1.00[JPT][hapmap]
rs2455402	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs250435	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs250439	0.85[ASN][1000 genomes]
rs250440	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs250862	0.87[ASN][1000 genomes]
rs251496	0.88[ASN][1000 genomes]
rs258290	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs258374	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs25945	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs25951	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs25952	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25983	0.88[JPT][hapmap]
rs25986	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs25987	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs25988	0.91[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs25992	0.91[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs26307	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs27356	0.87[JPT][hapmap]
rs27882	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs27911	0.91[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28004	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs31920	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs31921	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs31922	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs31923	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31924	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs31925	0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs31926	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs31928	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs31929	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs31930	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs31968	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3866215	0.86[JPT][hapmap]
rs40578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42358	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs42410	0.99[ASN][1000 genomes]
rs42681	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs456180	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs459467	0.88[ASN][1000 genomes]
rs466880	0.92[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs4702043	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs6554856	0.82[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6872954	0.94[JPT][hapmap]
rs73048831	0.88[EUR][1000 genomes]
rs73048837	0.86[EUR][1000 genomes]
rs73048838	0.82[EUR][1000 genomes]
rs745328	0.94[JPT][hapmap]
rs95492	0.83[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]

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
rs31919	FAM105B	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14674000-14712800	Strong transcription	Fetal Intestine Large	intestine
2	chr5:14674600-14695600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:14675200-14695800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:14676800-14705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:14677000-14695200	Strong transcription	K562	blood
6	chr5:14677600-14705600	Strong transcription	Dnd41	blood
7	chr5:14677800-14704000	Strong transcription	HepG2	liver
8	chr5:14678600-14704200	Strong transcription	Fetal Thymus	thymus
9	chr5:14684600-14726200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:14686400-14700800	Strong transcription	Primary T cells from cord blood	blood
11	chr5:14686600-14695000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:14686600-14695600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:14686800-14694400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr5:14686800-14694600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr5:14686800-14698800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:14686800-14699200	Strong transcription	Osteobl	bone
17	chr5:14686800-14704200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:14687000-14694600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:14687000-14694800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:14687000-14700200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr5:14687200-14694200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:14687200-14694200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:14687200-14694600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:14687200-14694600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:14687200-14694600	Strong transcription	Brain Hippocampus Middle	brain
26	chr5:14687400-14691600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:14687400-14696600	Strong transcription	HUVEC	blood vessel
28	chr5:14687600-14693400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:14687600-14696600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
30	chr5:14687800-14691600	Strong transcription	Fetal Kidney	kidney
31	chr5:14687800-14691800	Strong transcription	Rectal Smooth Muscle	rectum
32	chr5:14687800-14694600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:14687800-14700400	Strong transcription	HSMM	muscle
34	chr5:14687800-14702800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:14688000-14696600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:14688000-14698600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:14688200-14691600	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr5:14688200-14691600	Strong transcription	Brain Cingulate Gyrus	brain
39	chr5:14688200-14691600	Strong transcription	Fetal Heart	heart
40	chr5:14688200-14691600	Strong transcription	Gastric	stomach
41	chr5:14688200-14691600	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:14688200-14691800	Strong transcription	Colonic Mucosa	Colon
43	chr5:14688400-14691600	Strong transcription	Right Ventricle	heart
44	chr5:14688600-14691600	ZNF genes & repeats	GM12878-XiMat	blood
45	chr5:14690000-14692000	Strong transcription	Small Intestine	intestine
46	chr5:14690200-14691600	ZNF genes & repeats	Aorta	Aorta
47	chr5:14690600-14691600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:14690600-14691600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr5:14690600-14694600	Strong transcription	NHLF	lung
50	chr5:14690600-14694800	Strong transcription	Fetal Muscle Trunk	muscle

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