Variant report

Variant	rs618078
Chromosome Location	chr11:107326340-107326341
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	chr11:107321719..107323399-chr11:107326158..107328000,2	MCF-7	breast:
2	chr11:107321712..107323606-chr11:107324966..107327081,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10458952	0.82[ASN][1000 genomes]
rs11212172	0.82[JPT][hapmap]
rs11212198	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs11212208	0.82[ASN][1000 genomes]
rs11212209	0.82[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11212210	0.82[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11212212	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11212213	0.82[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs11212214	0.82[ASN][1000 genomes]
rs11212215	0.82[ASN][1000 genomes]
rs11212216	0.82[ASN][1000 genomes]
rs11212218	0.82[ASN][1000 genomes]
rs11212221	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11212222	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11212225	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11212226	0.85[ASN][1000 genomes]
rs11212227	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11212228	0.85[ASN][1000 genomes]
rs11212229	0.82[ASN][1000 genomes]
rs11212230	0.87[ASN][1000 genomes]
rs11212231	0.83[ASN][1000 genomes]
rs11212232	0.83[ASN][1000 genomes]
rs11212237	0.82[ASN][1000 genomes]
rs11212239	0.82[ASN][1000 genomes]
rs11212241	0.95[ASN][1000 genomes]
rs11212243	0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11212244	0.95[ASN][1000 genomes]
rs11212245	0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11212246	0.95[ASN][1000 genomes]
rs11212248	0.98[ASN][1000 genomes]
rs12224202	0.82[ASN][1000 genomes]
rs12225955	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12274630	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1263297	0.80[TSI][hapmap]
rs17106918	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17106969	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17587175	0.82[JPT][hapmap]
rs17663749	0.82[JPT][hapmap]
rs2276271	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs474053	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs501919	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs504617	0.80[TSI][hapmap]
rs514117	0.80[CEU][hapmap]
rs524764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs526875	0.80[TSI][hapmap]
rs535629	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs546313	0.80[TSI][hapmap]
rs546363	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554506	0.80[TSI][hapmap]
rs576672	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602625	0.80[TSI][hapmap]
rs603918	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs608352	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs612080	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs619933	0.80[TSI][hapmap]
rs628609	0.80[CEU][hapmap]
rs629755	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs632910	0.80[TSI][hapmap]
rs643392	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644954	0.80[TSI][hapmap]
rs645538	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652429	0.80[TSI][hapmap]
rs654272	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658584	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs661085	0.80[TSI][hapmap]
rs784150	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925025	0.82[ASN][1000 genomes]
rs7945950	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv2756363	chr11:107189790-107376790	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv898375	chr11:107299631-107365191	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv898376	chr11:107299631-107443420	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv898377	chr11:107316499-107354312	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv2757476	chr11:107324276-107344568	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv2759864	chr11:107324276-107344568	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs618078	CWF19L2	cis	parietal	SCAN
rs618078	CWF19L2	cis	cerebellum	SCAN
rs618078	GUCY1A2	cis	cerebellum	SCAN
rs618078	ZC3H12C	cis	parietal	SCAN
rs618078	DDX10	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107241600-107327800	Weak transcription	HSMMtube	muscle
2	chr11:107255000-107327600	Weak transcription	Fetal Heart	heart
3	chr11:107256600-107327600	Weak transcription	NHDF-Ad	bronchial
4	chr11:107292800-107327600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:107298200-107327400	Weak transcription	A549	lung
6	chr11:107300400-107326800	Weak transcription	Hela-S3	cervix
7	chr11:107301000-107326800	Weak transcription	HMEC	breast
8	chr11:107307800-107326800	Weak transcription	Fetal Brain Male	brain
9	chr11:107311000-107327400	Weak transcription	Psoas Muscle	Psoas
10	chr11:107313000-107327400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:107313400-107327600	Weak transcription	Brain Substantia Nigra	brain
12	chr11:107315400-107326800	Weak transcription	NHEK	skin
13	chr11:107317000-107326800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:107319200-107326600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:107319800-107326400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:107320400-107326400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:107321600-107326400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:107322200-107326400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:107323200-107326600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:107323800-107326400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:107323800-107327800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:107324400-107327800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:107324800-107326800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:107325000-107326400	Weak transcription	K562	blood
25	chr11:107325000-107326600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:107325000-107326600	Weak transcription	Brain Germinal Matrix	brain
27	chr11:107325000-107326600	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:107325000-107326600	Weak transcription	HepG2	liver
29	chr11:107325000-107326800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:107325000-107326800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr11:107325000-107326800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:107325000-107326800	Weak transcription	Brain Angular Gyrus	brain
33	chr11:107325000-107326800	Weak transcription	Brain Anterior Caudate	brain
34	chr11:107325000-107326800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:107325000-107326800	Weak transcription	Fetal Stomach	stomach
36	chr11:107325000-107326800	Weak transcription	Fetal Thymus	thymus
37	chr11:107325000-107326800	Weak transcription	Small Intestine	intestine
38	chr11:107325000-107326800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:107325000-107326800	Weak transcription	Thymus	Thymus
40	chr11:107325000-107327000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:107325000-107327000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:107325000-107327000	Weak transcription	Primary T cells from cord blood	blood
43	chr11:107325000-107327000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr11:107325000-107327000	Weak transcription	Fetal Lung	lung
45	chr11:107325000-107327400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:107325000-107327400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:107325000-107327400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:107325000-107327400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:107325000-107327400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:107325000-107327400	Weak transcription	Fetal Intestine Large	intestine

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