Variant report

Variant	rs2107146
Chromosome Location	chr7:110736632-110736633
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	chr7:110735385..110737015-chr7:110750198..110752508,2	K562	blood:
2	chr7:110734986..110737421-chr7:110741175..110743179,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10226045	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10233469	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10251869	0.82[AMR][1000 genomes]
rs10257075	0.88[JPT][hapmap]
rs10261004	0.88[GIH][hapmap];0.88[JPT][hapmap]
rs10261591	0.86[JPT][hapmap]
rs10262354	0.84[GIH][hapmap];0.88[JPT][hapmap]
rs10270683	0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1034698	0.86[JPT][hapmap]
rs10487301	1.00[ASW][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10487302	1.00[ASW][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10487304	0.86[JPT][hapmap]
rs10953676	0.86[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10953677	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10953678	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10953679	0.88[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10953682	0.86[JPT][hapmap]
rs10953683	0.80[GIH][hapmap];0.86[JPT][hapmap]
rs1121497	0.80[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs11773752	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11976211	0.89[ASW][hapmap];0.84[GIH][hapmap];0.88[JPT][hapmap];0.92[LWK][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs12532608	0.92[AFR][1000 genomes]
rs12668074	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12669471	0.85[JPT][hapmap]
rs12674169	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12674347	0.83[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12674439	1.00[ASW][hapmap];0.89[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12705753	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12705754	1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12705756	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17158299	0.85[CHD][hapmap]
rs17158333	0.86[JPT][hapmap]
rs2014938	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2041659	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2051797	0.81[CEU][hapmap]
rs2107145	0.83[CEU][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap]
rs2107147	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2110320	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs214890	0.88[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs214892	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs214893	0.82[JPT][hapmap]
rs214896	0.81[CHD][hapmap]
rs214897	0.95[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2189323	0.83[CEU][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap]
rs2894590	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4727755	1.00[ASW][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4730475	0.89[AFR][1000 genomes]
rs4730477	0.86[JPT][hapmap]
rs4730479	0.83[CEU][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap]
rs4730481	0.83[CEU][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap]
rs4730482	0.86[JPT][hapmap]
rs60682653	0.87[ASN][1000 genomes]
rs6466375	0.86[JPT][hapmap]
rs73418019	0.80[ASN][1000 genomes]
rs73418031	0.83[ASN][1000 genomes]
rs73418039	0.80[AMR][1000 genomes]
rs7455821	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs757219	0.82[GIH][hapmap];0.88[JPT][hapmap];0.83[MKK][hapmap]
rs7778044	0.86[JPT][hapmap]
rs7781676	0.81[CHD][hapmap];0.81[MEX][hapmap]
rs7781715	0.81[CHD][hapmap];0.81[MEX][hapmap]
rs7800862	0.84[GIH][hapmap];0.88[JPT][hapmap]
rs7804649	1.00[ASW][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs995147	0.91[AMR][1000 genomes];0.82[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	nsv531434	chr7:110310931-110839892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh 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
2	esv3506497	chr7:110484691-111091738	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3506498	chr7:110484750-111091689	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2758129	chr7:110523298-110787849	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2759554	chr7:110523298-110787849	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1031546	chr7:110549137-110978256	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh 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	nsv817555	chr7:110564801-110990927	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1033286	chr7:110588021-110990928	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv539063	chr7:110588021-110990928	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv931978	chr7:110607590-111092490	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1025987	chr7:110609568-111258501	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv2830178	chr7:110645431-110778571	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription 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	2 gene(s)	inside rSNPs	diseases
13	nsv1024477	chr7:110660006-110944477	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv608154	chr7:110688993-110945501	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv608155	chr7:110722482-111351512	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv515693	chr7:110728181-110743602	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2107146	PMPCB	trans	parietal	SCAN
rs2107146	FUT9	trans	cerebellum	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110730200-110736800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:110732200-110736800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:110732400-110738600	Weak transcription	Psoas Muscle	Psoas
4	chr7:110732600-110738600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:110732800-110738200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:110732800-110738600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:110733800-110747200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:110734000-110737000	Weak transcription	A549	lung
9	chr7:110734200-110737400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:110734200-110738000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:110734800-110736800	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr7:110734800-110737200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:110734800-110761800	Weak transcription	Left Ventricle	heart
14	chr7:110734800-110762800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr7:110735000-110737000	Weak transcription	Brain Angular Gyrus	brain
16	chr7:110735000-110738000	Weak transcription	Brain Substantia Nigra	brain
17	chr7:110735000-110738200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:110735000-110738200	Weak transcription	Fetal Lung	lung
19	chr7:110735000-110738400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:110735000-110738600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:110735000-110739000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:110735000-110747400	Weak transcription	Adipose Nuclei	Adipose
23	chr7:110735200-110737200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:110735600-110737200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:110735600-110738800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr7:110735800-110736800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:110735800-110736800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:110735800-110738200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr7:110736000-110737000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr7:110736000-110738600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:110736000-110739000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr7:110736000-110744600	Weak transcription	Brain Germinal Matrix	brain
33	chr7:110736000-110747600	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:110736200-110736800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:110736200-110736800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr7:110736200-110736800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:110736200-110736800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:110736200-110737000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr7:110736200-110737400	Enhancers	Fetal Brain Male	brain
40	chr7:110736400-110737000	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr7:110736400-110737400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr7:110736400-110737800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr7:110736400-110738400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:110736400-110738400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:110736400-110738400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:110736400-110738600	Weak transcription	Brain Anterior Caudate	brain
47	chr7:110736400-110739400	Active TSS	Fetal Brain Female	brain
48	chr7:110736600-110737200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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