Variant report

Variant	rs7095404
Chromosome Location	chr10:112707103-112707104
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	chr10:112697054..112698735-chr10:112706865..112709739,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10787287	1.00[ASW][hapmap];0.87[CEU][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap];0.93[LWK][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10787289	0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs10787292	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10885075	0.85[ASW][hapmap];0.82[MKK][hapmap];0.86[YRI][hapmap]
rs1327548	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1341051	0.91[TSI][hapmap]
rs1359849	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.82[MKK][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1410054	0.92[EUR][1000 genomes]
rs1410057	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571239	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs1581886	1.00[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17128202	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1887460	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1980869	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[ASN][1000 genomes]
rs4309090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4918606	0.80[GIH][hapmap]
rs6421360	0.87[YRI][hapmap]
rs6585021	0.87[GIH][hapmap]
rs6585023	0.90[GIH][hapmap]
rs6585027	0.92[EUR][1000 genomes]
rs7067540	0.88[TSI][hapmap]
rs7072816	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7082572	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086350	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.94[TSI][hapmap];0.86[YRI][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7088364	0.86[EUR][1000 genomes]
rs7089193	0.86[YRI][hapmap]
rs7101075	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7895872	0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs7899762	0.89[EUR][1000 genomes]
rs7917192	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7922142	0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1035602	chr10:112636053-112781413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1051327	chr10:112650316-112772917	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv540774	chr10:112650316-112772917	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv831985	chr10:112652089-112803103	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1047865	chr10:112660427-112730573	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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	26 gene(s)	inside rSNPs	diseases
7	nsv1048809	chr10:112683822-112781413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1042020	chr10:112686323-112795159	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7095404	XPNPEP1	cis	cerebellum	SCAN
rs7095404	NRAP	cis	parietal	SCAN
rs7095404	HABP2	cis	parietal	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112682000-112708400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr10:112682000-112732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:112684400-112712600	Weak transcription	HepG2	liver
4	chr10:112685200-112719200	Weak transcription	A549	lung
5	chr10:112689600-112714400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:112690200-112707800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr10:112692000-112722000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr10:112692400-112719000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr10:112692400-112719000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr10:112692400-112724000	Weak transcription	Stomach Mucosa	stomach
11	chr10:112692600-112713600	Weak transcription	Hela-S3	cervix
12	chr10:112692600-112732400	Weak transcription	Fetal Intestine Large	intestine
13	chr10:112693600-112719200	Weak transcription	Small Intestine	intestine
14	chr10:112693600-112722000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr10:112695200-112709000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr10:112695400-112722400	Weak transcription	Colonic Mucosa	Colon
17	chr10:112697200-112720400	Weak transcription	Ovary	ovary
18	chr10:112697200-112740200	Weak transcription	Thymus	Thymus
19	chr10:112697200-112745400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr10:112698000-112724000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr10:112700400-112711000	Weak transcription	HSMMtube	muscle
22	chr10:112700600-112707600	ZNF genes & repeats	GM12878-XiMat	blood
23	chr10:112700600-112712200	Weak transcription	Fetal Brain Male	brain
24	chr10:112700600-112764000	Weak transcription	Placenta	Placenta
25	chr10:112700800-112709800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr10:112700800-112709800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:112701200-112708800	Weak transcription	Brain Substantia Nigra	brain
28	chr10:112701200-112726800	Weak transcription	Dnd41	blood
29	chr10:112701600-112711400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr10:112702200-112707400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr10:112702200-112722000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr10:112702400-112754800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr10:112703200-112712000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:112703200-112712400	Weak transcription	Fetal Kidney	kidney
35	chr10:112703600-112721400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr10:112703800-112712200	Weak transcription	Fetal Lung	lung
37	chr10:112703800-112712400	Weak transcription	Fetal Muscle Leg	muscle
38	chr10:112703800-112718200	Weak transcription	Liver	Liver
39	chr10:112703800-112720800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr10:112703800-112724200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr10:112703800-112725800	Weak transcription	HUVEC	blood vessel
42	chr10:112703800-112729000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr10:112704000-112707200	Enhancers	Osteobl	bone
44	chr10:112704600-112707200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr10:112704600-112714600	Weak transcription	Brain Angular Gyrus	brain
46	chr10:112704800-112707200	Enhancers	NHDF-Ad	bronchial
47	chr10:112704800-112719000	Weak transcription	Colon Smooth Muscle	Colon
48	chr10:112705200-112708600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr10:112705200-112712400	Weak transcription	Fetal Thymus	thymus
50	chr10:112705200-112789800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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