Variant report

Variant	rs7527863
Chromosome Location	chr1:212431431-212431432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212427899..212432292-chr1:212432529..212438731,7	K562	blood:
2	chr1:212428875..212432292-chr1:212434801..212437724,6	K562	blood:
3	chr1:212423429..212425837-chr1:212429181..212431560,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10863959	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119892	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11576437	0.88[GIH][hapmap]
rs11580285	0.85[GIH][hapmap]
rs11589817	0.88[GIH][hapmap]
rs12062131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12066356	0.82[AFR][1000 genomes]
rs12141025	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12727947	0.86[GIH][hapmap]
rs12728266	0.88[GIH][hapmap]
rs12759994	0.80[AFR][1000 genomes]
rs1473321	0.85[CEU][hapmap]
rs1539206	0.85[CEU][hapmap]
rs6540739	0.81[CEU][hapmap]
rs7513529	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521041	0.95[AFR][1000 genomes]
rs7531219	1.00[YRI][hapmap];0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs7527863	C1orf75	Cis_1M	lymphoblastoid	RTeQTL
rs7527863	TMEM206	cis	parietal	SCAN
rs7527863	TMEM206	cis	cerebellum	SCAN
rs7527863	SCARNA4	trans	cerebellum	SCAN
rs7527863	BATF3	cis	cerebellum	SCAN
rs7527863	VASH2	cis	cerebellum	SCAN
rs7527863	CD34	cis	cerebellum	SCAN
rs7527863	LOC148696	cis	parietal	SCAN
rs7527863	LGTN	cis	cerebellum	SCAN
rs7527863	RP11-15I11.3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212428200-212431800	Enhancers	Pancreas	Pancrea
2	chr1:212428600-212434000	Weak transcription	Esophagus	oesophagus
3	chr1:212428800-212434000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:212429200-212434200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:212429200-212434400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:212429400-212431600	Enhancers	Liver	Liver
7	chr1:212429400-212432600	Weak transcription	Brain Angular Gyrus	brain
8	chr1:212429400-212434000	Weak transcription	Stomach Mucosa	stomach
9	chr1:212429400-212434800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:212429400-212435600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:212429600-212433000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:212429600-212434000	Weak transcription	Fetal Intestine Large	intestine
13	chr1:212429600-212434200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:212429800-212432400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr1:212429800-212434000	Weak transcription	K562	blood
16	chr1:212430000-212431600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:212430000-212431600	Weak transcription	Small Intestine	intestine
18	chr1:212430000-212431800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:212430000-212433600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:212430000-212433800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:212430200-212433200	Enhancers	Primary T cells from cord blood	blood
22	chr1:212430200-212434600	Weak transcription	Left Ventricle	heart
23	chr1:212430400-212435600	Enhancers	HepG2	liver
24	chr1:212430600-212431600	Weak transcription	Thymus	Thymus
25	chr1:212430600-212434000	Weak transcription	Lung	lung
26	chr1:212430600-212435000	Enhancers	Adipose Nuclei	Adipose
27	chr1:212430800-212434000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:212430800-212434400	Weak transcription	Right Atrium	heart
29	chr1:212430800-212434400	Weak transcription	Right Ventricle	heart
30	chr1:212431000-212431800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr1:212431000-212432200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:212431000-212434000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr1:212431000-212434200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:212431200-212431800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:212431200-212434000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:212431400-212431800	Enhancers	Gastric	stomach
37	chr1:212431400-212432200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:212431400-212432800	Weak transcription	Primary B cells from cord blood	blood

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