Variant report

Variant	rs715239
Chromosome Location	chr4:100738035-100738036
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100483752..100485298-chr4:100736199..100738543,2	MCF-7	breast:
2	chr4:100737221..100739559-chr4:100813734..100816080,3	MCF-7	breast:
3	chr4:100735638..100738493-chr4:100866484..100869243,2	MCF-7	breast:
4	chr4:100737053..100739337-chr4:100869822..100871487,2	K562	blood:
5	chr4:100737796..100739417-chr4:100869938..100872690,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145331	Chromatin interaction
ENSG00000138823	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000164031	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11097676	0.95[CHB][hapmap];0.97[CHD][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];0.98[ASN][1000 genomes]
rs11097677	0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11097678	0.97[ASN][1000 genomes]
rs11732776	0.91[JPT][hapmap]
rs1365491	0.91[CHB][hapmap];0.97[CHD][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.97[ASN][1000 genomes]
rs1365492	0.91[JPT][hapmap]
rs1365495	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1426735	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1465518	0.86[GIH][hapmap]
rs17029552	0.97[ASN][1000 genomes]
rs17029563	0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.82[MKK][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17029583	0.81[ASN][1000 genomes]
rs1863608	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs1896166	0.91[JPT][hapmap]
rs1961323	0.91[JPT][hapmap]
rs1972698	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2114442	0.91[JPT][hapmap]
rs2282588	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2298735	0.91[JPT][hapmap]
rs2866174	0.87[JPT][hapmap]
rs3756085	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3756086	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3756087	0.91[JPT][hapmap]
rs3775499	0.88[ASW][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.87[JPT][hapmap];0.97[ASN][1000 genomes]
rs3775500	0.95[CHB][hapmap];0.97[CHD][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.97[ASN][1000 genomes]
rs3775501	0.95[CHB][hapmap];0.97[CHD][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.98[ASN][1000 genomes]
rs4699764	0.83[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.98[ASN][1000 genomes]
rs4699765	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56174126	0.96[ASN][1000 genomes]
rs6532833	0.83[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.87[JPT][hapmap];0.97[ASN][1000 genomes]
rs6532835	0.91[JPT][hapmap]
rs6814895	0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs6848337	0.91[JPT][hapmap]
rs6849599	0.87[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs6854536	0.91[JPT][hapmap]
rs7676564	0.91[JPT][hapmap]
rs7684872	0.91[JPT][hapmap]
rs7686428	0.91[JPT][hapmap]
rs7687842	0.97[ASN][1000 genomes]
rs7688733	0.96[ASN][1000 genomes]
rs7689566	0.91[JPT][hapmap]
rs7692416	0.91[JPT][hapmap]
rs7698065	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs919132	0.91[JPT][hapmap]
rs919133	0.91[JPT][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs715239	MAPKSP1	cis	parietal	SCAN
rs715239	DAPP1	Cis_1M	lymphoblastoid	RTeQTL
rs715239	DNAJB14	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100723200-100741000	Weak transcription	Right Atrium	heart
2	chr4:100736400-100740600	Enhancers	K562	blood
3	chr4:100736600-100740000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr4:100737000-100742000	Weak transcription	Pancreas	Pancrea
5	chr4:100737400-100738200	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr4:100737400-100738200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr4:100737400-100738400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr4:100737400-100739200	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr4:100737400-100739200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr4:100737400-100739400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr4:100737400-100739400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:100737400-100740200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr4:100737400-100741200	Weak transcription	Spleen	Spleen
14	chr4:100737600-100738200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:100737600-100738200	Enhancers	Gastric	stomach
16	chr4:100737600-100739000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:100737600-100739000	Active TSS	Thymus	Thymus
18	chr4:100737600-100739200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:100737600-100739800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr4:100737600-100739800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:100737600-100740000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:100737800-100738200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:100737800-100738200	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr4:100737800-100738400	Active TSS	Primary B cells from cord blood	blood
25	chr4:100737800-100738400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:100737800-100738800	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr4:100737800-100738800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:100737800-100739200	Active TSS	Primary B cells from peripheral blood	blood
29	chr4:100737800-100739200	Active TSS	Adipose Nuclei	Adipose
30	chr4:100737800-100739200	Active TSS	Duodenum Mucosa	Duodenum
31	chr4:100737800-100739400	Active TSS	NHEK	skin
32	chr4:100737800-100739600	Active TSS	Esophagus	oesophagus
33	chr4:100737800-100740000	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr4:100737800-100741000	Active TSS	GM12878-XiMat	blood
35	chr4:100738000-100738200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:100738000-100738200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:100738000-100738200	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr4:100738000-100738200	Flanking Active TSS	Stomach Mucosa	stomach
39	chr4:100738000-100738200	Flanking Active TSS	HMEC	breast
40	chr4:100738000-100738400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr4:100738000-100738400	Flanking Active TSS	Placenta	Placenta
42	chr4:100738000-100738400	Flanking Active TSS	Fetal Thymus	thymus
43	chr4:100738000-100738400	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr4:100738000-100738600	Active TSS	Fetal Muscle Leg	muscle
45	chr4:100738000-100738600	Active TSS	Placenta Amnion	Placenta Amnion
46	chr4:100738000-100738800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:100738000-100738800	Active TSS	Primary monocytes fromperipheralblood	blood
48	chr4:100738000-100738800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr4:100738000-100738800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr4:100738000-100739000	Active TSS	Liver	Liver

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