Variant report

Variant	rs2515434
Chromosome Location	chr8:6374893-6374894
allele	A/C
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: 76 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs17063434	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17077313	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1960369	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2442476	1.00[CEU][hapmap]
rs2442601	0.81[EUR][1000 genomes]
rs2442611	1.00[CEU][hapmap];1.00[MEX][hapmap];0.86[EUR][1000 genomes]
rs2442612	1.00[CEU][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs2442613	0.86[EUR][1000 genomes]
rs2442614	0.86[EUR][1000 genomes]
rs2442615	0.86[EUR][1000 genomes]
rs2442616	0.86[EUR][1000 genomes]
rs2442617	0.86[EUR][1000 genomes]
rs2442619	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2442621	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2442623	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2442624	0.86[ASW][hapmap];1.00[CEU][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2442625	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2442626	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2442627	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2442628	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515423	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515425	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515426	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515427	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515428	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515429	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515430	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2515431	0.94[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2515433	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515436	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515437	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515438	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515439	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515442	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515443	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515444	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515445	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515448	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2515449	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2515450	0.86[EUR][1000 genomes]
rs2515451	0.86[EUR][1000 genomes]
rs2515452	0.86[EUR][1000 genomes]
rs2515454	0.86[EUR][1000 genomes]
rs2515456	1.00[CEU][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs2515457	0.86[EUR][1000 genomes]
rs2515458	1.00[CEU][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs2515459	0.86[EUR][1000 genomes]
rs2515460	0.86[EUR][1000 genomes]
rs2515461	0.86[EUR][1000 genomes]
rs2515463	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs2515467	0.84[EUR][1000 genomes]
rs2515468	0.88[CEU][hapmap]
rs2515596	1.00[CEU][hapmap]
rs2922891	0.86[EUR][1000 genomes]
rs2922898	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3020222	0.83[EUR][1000 genomes]
rs3020223	1.00[CEU][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs73199047	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73199048	0.86[EUR][1000 genomes]
rs73199051	0.86[EUR][1000 genomes]
rs73199054	0.86[EUR][1000 genomes]
rs963495	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs963496	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2515434	KLK1	trans	brain	seeQTL
rs2515434	PERP	trans	brain	seeQTL
rs2515434	SLC26A2	trans	brain	seeQTL
rs2515434	FGL2	trans	brain	seeQTL

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	chr8:6341000-6375000	Weak transcription	Brain Angular Gyrus	brain
5	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:6345800-6402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:6346200-6386000	Weak transcription	NH-A	brain
8	chr8:6352000-6375600	Weak transcription	Aorta	Aorta
9	chr8:6352400-6391400	Weak transcription	Ovary	ovary
10	chr8:6357800-6391400	Weak transcription	Colonic Mucosa	Colon
11	chr8:6359200-6389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:6360400-6386200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:6360800-6383800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:6361200-6375200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:6361200-6375800	Weak transcription	Right Ventricle	heart
16	chr8:6361200-6378000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:6361200-6380800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:6361200-6386000	Weak transcription	Fetal Intestine Large	intestine
19	chr8:6361400-6380000	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:6362600-6378200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:6364200-6377200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:6364200-6417200	Weak transcription	Fetal Kidney	kidney
23	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:6366600-6376600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:6366800-6389800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:6367200-6417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:6367400-6389200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:6367600-6379200	Weak transcription	HSMM	muscle
29	chr8:6368400-6375200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:6368800-6392200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:6370200-6381400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:6370200-6383400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:6370200-6400800	Weak transcription	Fetal Intestine Small	intestine
34	chr8:6370400-6376400	Weak transcription	Gastric	stomach
35	chr8:6370400-6376400	Weak transcription	Spleen	Spleen
36	chr8:6370400-6376600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:6370400-6376600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:6370400-6382600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr8:6370400-6383800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:6370400-6386000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:6370400-6389200	Weak transcription	Osteobl	bone
42	chr8:6370400-6391200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:6370400-6400200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:6370400-6402600	Weak transcription	GM12878-XiMat	blood
45	chr8:6370400-6403000	Weak transcription	Primary B cells from cord blood	blood
46	chr8:6370400-6405000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:6370800-6375600	Weak transcription	Dnd41	blood
48	chr8:6371400-6375400	Enhancers	Liver	Liver
49	chr8:6372200-6375400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:6372600-6375000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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