Variant report

Variant	rs2515435
Chromosome Location	chr8:6375044-6375045
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6373777..6375573-chr8:6376126..6378974,2	K562	blood:
2	chr8:6366887..6369432-chr8:6372035..6375805,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs13277236	0.88[ASN][1000 genomes]
rs13278243	0.86[ASN][1000 genomes]
rs13281117	0.91[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17077317	0.81[JPT][hapmap]
rs1870	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1975616	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs2167071	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs2442468	0.88[CHD][hapmap]
rs2442618	0.82[AMR][1000 genomes]
rs2442629	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2442631	0.96[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2442632	0.82[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2442633	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2442634	0.81[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2442635	0.82[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2442636	0.82[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515418	0.80[AMR][1000 genomes]
rs2515420	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2515421	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515422	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515424	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515431	0.88[CEU][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2515432	0.85[TSI][hapmap]
rs2515441	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2515446	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2916725	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2916726	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2916729	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2916731	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2916736	0.91[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2916755	0.91[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2922804	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs2922895	0.92[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2922897	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2922901	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2922903	0.95[ASN][1000 genomes]
rs2922905	0.81[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2922906	0.91[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2922907	0.81[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2959790	0.90[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2959791	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2959793	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs2979666	0.82[MEX][hapmap]
rs2979671	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2979672	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3020212	0.91[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs3020213	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3020214	0.91[CHB][hapmap];0.91[CHD][hapmap];0.83[JPT][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3020216	0.85[JPT][hapmap];0.96[ASN][1000 genomes]
rs3020217	0.96[ASN][1000 genomes]
rs3020218	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3020219	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3020221	0.91[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv890057	chr8:6317165-6427868	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv1022895	chr8:6355213-6414874	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv933260	chr8:6357124-6410013	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2515435	DEFA5	cis	parietal	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6317800-6380200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:6336800-6377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:6338800-6389600	Weak transcription	HSMMtube	muscle
4	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr8:6345800-6402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:6346200-6386000	Weak transcription	NH-A	brain
7	chr8:6352000-6375600	Weak transcription	Aorta	Aorta
8	chr8:6352400-6391400	Weak transcription	Ovary	ovary
9	chr8:6357800-6391400	Weak transcription	Colonic Mucosa	Colon
10	chr8:6359200-6389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:6360400-6386200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:6360800-6383800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:6361200-6375200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:6361200-6375800	Weak transcription	Right Ventricle	heart
15	chr8:6361200-6378000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:6361200-6380800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:6361200-6386000	Weak transcription	Fetal Intestine Large	intestine
18	chr8:6361400-6380000	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:6362600-6378200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:6364200-6377200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:6364200-6417200	Weak transcription	Fetal Kidney	kidney
22	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:6366600-6376600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:6366800-6389800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:6367200-6417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:6367400-6389200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:6367600-6379200	Weak transcription	HSMM	muscle
28	chr8:6368400-6375200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:6368800-6392200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:6370200-6381400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:6370200-6383400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:6370200-6400800	Weak transcription	Fetal Intestine Small	intestine
33	chr8:6370400-6376400	Weak transcription	Gastric	stomach
34	chr8:6370400-6376400	Weak transcription	Spleen	Spleen
35	chr8:6370400-6376600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:6370400-6376600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:6370400-6382600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:6370400-6383800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:6370400-6386000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:6370400-6389200	Weak transcription	Osteobl	bone
41	chr8:6370400-6391200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr8:6370400-6400200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:6370400-6402600	Weak transcription	GM12878-XiMat	blood
44	chr8:6370400-6403000	Weak transcription	Primary B cells from cord blood	blood
45	chr8:6370400-6405000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr8:6370800-6375600	Weak transcription	Dnd41	blood
47	chr8:6371400-6375400	Enhancers	Liver	Liver
48	chr8:6372200-6375400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:6372600-6375200	Enhancers	HMEC	breast
50	chr8:6372600-6375200	Enhancers	NHEK	skin

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