Variant report

Variant	rs1044805
Chromosome Location	chr7:149536503-149536504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:149466134..149470595-chr7:149532425..149537706,5	MCF-7	breast:
2	chr7:149470096..149472502-chr7:149535858..149537957,2	K562	blood:
3	chr7:149536256..149537911-chr7:149545323..149547402,2	K562	blood:
4	chr7:149520950..149523634-chr7:149534004..149537065,3	K562	blood:
5	chr7:149535432..149538355-chr7:150102358..150106003,3	MCF-7	breast:
6	chr7:149516696..149519376-chr7:149534960..149537116,2	MCF-7	breast:
7	chr7:149535857..149538432-chr7:149551451..149554289,3	MCF-7	breast:
8	chr7:149534427..149538606-chr7:149567610..149571411,8	MCF-7	breast:
9	chr7:149520043..149524365-chr7:149535249..149538309,4	MCF-7	breast:
10	chr7:149534468..149539239-chr7:149549126..149555518,7	MCF-7	breast:
11	chr7:149536138..149537939-chr7:149539704..149541464,2	MCF-7	breast:
12	chr7:149534869..149537140-chr7:149569608..149571872,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000181444	Chromatin interaction
ENSG00000171130	Chromatin interaction
ENSG00000106479	Chromatin interaction
ENSG00000204934	Chromatin interaction
ENSG00000197558	Chromatin interaction
ENSG00000196456	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1005603	1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs1008336	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs10250401	0.92[ASN][1000 genomes]
rs10252161	0.86[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs10261977	1.00[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs10262226	0.97[ASN][1000 genomes]
rs11979187	1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs12666932	0.83[ASN][1000 genomes]
rs12673475	0.92[ASN][1000 genomes]
rs1557955	0.92[ASN][1000 genomes]
rs1557956	0.92[ASN][1000 genomes]
rs2040906	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4389841	0.93[ASN][1000 genomes]
rs57009176	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57307418	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57339339	0.82[ASN][1000 genomes]
rs62617122	0.96[ASN][1000 genomes]
rs6953743	0.84[ASN][1000 genomes]
rs6958235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6960187	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6974897	0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6975030	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7791767	1.00[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs7795784	0.84[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv831184	chr7:149424835-149600093	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv2758139	chr7:149441590-149956415	Strong transcription Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	esv2759571	chr7:149441590-149956415	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv889408	chr7:149458623-149539138	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv521861	chr7:149458623-149582906	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv889409	chr7:149458623-149585379	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
14	nsv889411	chr7:149465674-149539138	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1029471	chr7:149496177-149810381	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
16	nsv539193	chr7:149496177-149810381	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
17	nsv1033095	chr7:149508083-149781872	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
18	nsv608987	chr7:149509981-149547703	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1044805	SNORD15B	trans	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149535000-149536800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:149535200-149536600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:149535200-149536600	Active TSS	Fetal Brain Female	brain
4	chr7:149535200-149536600	Active TSS	HSMM	muscle
5	chr7:149535200-149536800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:149535200-149536800	Active TSS	Brain Germinal Matrix	brain
7	chr7:149535400-149536600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr7:149535400-149536600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr7:149535400-149536600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:149535400-149536600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:149535400-149537000	Active TSS	NHLF	lung
12	chr7:149535800-149536600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:149535800-149536600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:149535800-149536600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr7:149535800-149537000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr7:149536000-149536600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr7:149536000-149536600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr7:149536000-149536600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr7:149536000-149536600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr7:149536000-149536600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr7:149536000-149536600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:149536000-149536600	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr7:149536000-149536600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr7:149536000-149536600	Flanking Active TSS	Fetal Lung	lung
25	chr7:149536000-149536600	Flanking Active TSS	Fetal Thymus	thymus
26	chr7:149536000-149536600	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr7:149536000-149536600	Flanking Active TSS	HUVEC	blood vessel
28	chr7:149536000-149536600	Flanking Active TSS	K562	blood
29	chr7:149536000-149536600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr7:149536000-149536600	Flanking Active TSS	Osteobl	bone
31	chr7:149536000-149536800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:149536000-149536800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr7:149536000-149536800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:149536000-149536800	Flanking Active TSS	NHEK	skin
35	chr7:149536000-149537000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:149536000-149537000	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr7:149536000-149537000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr7:149536000-149537000	Flanking Active TSS	Dnd41	blood
39	chr7:149536000-149537200	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr7:149536000-149537200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:149536200-149536600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:149536200-149536600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
43	chr7:149536200-149536600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:149536200-149536600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr7:149536200-149536600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:149536200-149536600	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr7:149536200-149536600	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr7:149536200-149536600	Flanking Active TSS	Fetal Heart	heart
49	chr7:149536200-149536600	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr7:149536200-149536600	Flanking Active TSS	Fetal Muscle Leg	muscle

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