Variant report

Variant	rs10275267
Chromosome Location	chr7:97774300-97774301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97768037..97770544-chr7:97772869..97774678,2	K562	blood:
2	chr7:97764283..97766724-chr7:97772690..97775422,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10215815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235547	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10238491	0.82[CEU][hapmap];0.95[GIH][hapmap]
rs10248229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10254594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10254691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10258913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259449	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10499940	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10499944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532406	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12539490	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17169406	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169462	0.82[ASW][hapmap];0.91[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2272184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291748	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3735253	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3735256	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67300176	0.81[AFR][1000 genomes]
rs72494441	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404144	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73404162	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73406026	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73406034	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7341519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs754464	1.00[ASW][hapmap];0.87[LWK][hapmap]
rs9656054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription 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	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10275267	DKFZP434B0335	cis	multi-tissue	Pritchard

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97745600-97781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:97752600-97780800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:97761400-97781000	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:97762600-97793000	Weak transcription	Fetal Heart	heart
5	chr7:97763200-97792600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:97763400-97775000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:97763400-97801000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:97763400-97821000	Weak transcription	NHLF	lung
9	chr7:97763600-97788400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:97763600-97793000	Weak transcription	NH-A	brain
11	chr7:97763600-97814200	Weak transcription	Osteobl	bone
12	chr7:97763600-97815800	Weak transcription	HSMM	muscle
13	chr7:97763800-97784000	Weak transcription	HUVEC	blood vessel
14	chr7:97764000-97806200	Weak transcription	Psoas Muscle	Psoas
15	chr7:97764400-97780800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:97765400-97780800	Weak transcription	Brain Angular Gyrus	brain
17	chr7:97765800-97840800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:97766000-97776200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:97766000-97778400	Weak transcription	Small Intestine	intestine
20	chr7:97766000-97778800	Strong transcription	Dnd41	blood
21	chr7:97766000-97795000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:97766200-97781600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:97766200-97790000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:97766400-97775000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:97766400-97786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:97766600-97798400	Weak transcription	HSMMtube	muscle
27	chr7:97766800-97774400	Strong transcription	Fetal Intestine Large	intestine
28	chr7:97766800-97774400	Strong transcription	Fetal Thymus	thymus
29	chr7:97766800-97775000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:97766800-97777000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:97767000-97774600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr7:97767200-97774600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:97767200-97775400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:97767800-97781200	Weak transcription	A549	lung
35	chr7:97767800-97781400	Weak transcription	GM12878-XiMat	blood
36	chr7:97767800-97781400	Weak transcription	HMEC	breast
37	chr7:97768200-97780800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:97768200-97784200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:97768600-97774800	Weak transcription	Fetal Lung	lung
40	chr7:97768600-97776400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:97768600-97780800	Weak transcription	Brain Hippocampus Middle	brain
42	chr7:97768800-97777000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:97768800-97780800	Weak transcription	Right Ventricle	heart
44	chr7:97768800-97780800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:97768800-97807000	Weak transcription	Stomach Mucosa	stomach
46	chr7:97769000-97781000	Weak transcription	Fetal Brain Female	brain
47	chr7:97770400-97775000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:97770600-97774600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:97770600-97774800	Strong transcription	Primary B cells from cord blood	blood
50	chr7:97770600-97775200	Strong transcription	H1 Cell Line	embryonic stem cell

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