Variant report

Variant	rs2686528
Chromosome Location	chr7:22340865-22340866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:22334644..22337302-chr7:22339444..22341533,2	K562	blood:
2	chr7:22331679..22334167-chr7:22340160..22341894,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10227259	1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10242605	0.95[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10242851	0.95[CEU][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10268485	0.95[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10276593	0.90[CEU][hapmap];0.87[JPT][hapmap]
rs10499545	0.81[CHB][hapmap]
rs11975330	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs11980801	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs12333620	0.90[CEU][hapmap];0.87[JPT][hapmap]
rs12534599	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs13239365	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1345252	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs1543886	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs1568571	0.90[CEU][hapmap];0.87[JPT][hapmap]
rs1568572	0.88[CEU][hapmap];0.87[JPT][hapmap]
rs1636895	0.93[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs17146447	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs17146497	0.88[ASN][1000 genomes]
rs17146709	0.80[CEU][hapmap]
rs1798803	0.89[ASN][1000 genomes]
rs2158877	0.93[CHB][hapmap];0.93[JPT][hapmap];0.84[TSI][hapmap];0.87[ASN][1000 genomes]
rs2256891	0.92[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs2528644	0.81[ASN][1000 genomes]
rs2528913	0.93[CHB][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.87[ASN][1000 genomes]
rs2528914	0.88[ASN][1000 genomes]
rs2528916	0.93[CHB][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.89[ASN][1000 genomes]
rs2528917	0.86[CHB][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap]
rs2528918	0.93[CHB][hapmap];0.93[JPT][hapmap];0.84[TSI][hapmap];0.89[ASN][1000 genomes]
rs2686499	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs4337997	0.80[CEU][hapmap]
rs4602791	0.80[CEU][hapmap]
rs62447068	0.89[ASN][1000 genomes]
rs7779510	0.95[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7796489	0.95[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7798671	0.95[CEU][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7799625	0.85[CEU][hapmap];0.87[JPT][hapmap]
rs7805084	0.86[CHB][hapmap];0.93[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830923	chr7:22316841-22494973	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2686528	KLK4	trans	cerebellum	SCAN
rs2686528	SP8	cis	cerebellum	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22282200-22364400	Weak transcription	Esophagus	oesophagus
2	chr7:22310000-22343400	Weak transcription	Spleen	Spleen
3	chr7:22320800-22345400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:22321000-22341600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:22321000-22346800	Weak transcription	NHEK	skin
6	chr7:22326800-22357000	Strong transcription	HepG2	liver
7	chr7:22327400-22345400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:22327600-22359600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:22327800-22350400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:22329600-22347000	Weak transcription	Colonic Mucosa	Colon
11	chr7:22329800-22345400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:22329800-22346200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:22330000-22345200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:22330000-22345200	Weak transcription	Primary B cells from cord blood	blood
15	chr7:22330000-22347000	Weak transcription	GM12878-XiMat	blood
16	chr7:22330800-22345400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:22331400-22359600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:22332600-22345200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:22333000-22345200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:22333400-22349600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:22333400-22361800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:22334400-22341800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:22334800-22344200	Weak transcription	Liver	Liver
24	chr7:22336200-22341600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:22336200-22346000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:22336400-22341800	Weak transcription	Lung	lung
27	chr7:22336600-22341400	Weak transcription	K562	blood
28	chr7:22336600-22341800	Weak transcription	Brain Angular Gyrus	brain
29	chr7:22336600-22347600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:22337000-22342000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:22337000-22357800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:22337000-22362600	Weak transcription	Brain Anterior Caudate	brain
33	chr7:22337600-22341800	Strong transcription	Dnd41	blood
34	chr7:22338200-22341600	Weak transcription	Fetal Intestine Small	intestine
35	chr7:22338200-22342400	Strong transcription	Fetal Thymus	thymus
36	chr7:22340400-22341800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:22340600-22341400	Weak transcription	Thymus	Thymus
38	chr7:22340600-22341800	Weak transcription	Pancreas	Pancrea
39	chr7:22340600-22369800	Weak transcription	Gastric	stomach
40	chr7:22340800-22341400	Weak transcription	Fetal Intestine Large	intestine
41	chr7:22340800-22342600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:22340800-22345000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr7:22340800-22352400	Weak transcription	Stomach Mucosa	stomach
44	chr7:22340800-22365000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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