Variant report

Variant	rs8070030
Chromosome Location	chr17:33864830-33864831
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33836676..33838220-chr17:33863138..33865744,2	K562	blood:

Variant related genes	Relation type
ENSG00000267074	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11080351	1.00[CHB][hapmap]
rs11080353	0.82[CEU][hapmap]
rs11080354	0.82[CEU][hapmap]
rs11080356	1.00[CHB][hapmap]
rs11650473	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656115	0.87[ASN][1000 genomes]
rs17550632	1.00[CHB][hapmap]
rs17550716	1.00[CHB][hapmap]
rs17638867	1.00[CHB][hapmap]
rs2011897	1.00[CHB][hapmap]
rs225244	1.00[CHB][hapmap]
rs225246	1.00[CHB][hapmap]
rs225268	1.00[CHB][hapmap]
rs225276	1.00[CHB][hapmap]
rs225278	1.00[CHB][hapmap]
rs225279	1.00[CHB][hapmap]
rs226089	1.00[CHB][hapmap]
rs226090	1.00[CHB][hapmap]
rs2376177	1.00[CHB][hapmap]
rs4795082	0.83[CEU][hapmap]
rs4795086	1.00[CHB][hapmap]
rs4796098	1.00[CHB][hapmap]
rs66878360	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7211724	1.00[CHB][hapmap]
rs72828026	0.94[ASN][1000 genomes]
rs8065635	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8073060	0.83[CEU][hapmap]
rs9649	1.00[CHB][hapmap]
rs9894813	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv574754	chr17:33841737-33881631	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8070030	LOC645744	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33860000-33865800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr17:33860400-33865200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr17:33860600-33866200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr17:33861400-33865000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:33861400-33865000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr17:33861600-33865200	Active TSS	GM12878-XiMat	blood
7	chr17:33862000-33865000	Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr17:33862800-33865000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr17:33862800-33865400	Weak transcription	Liver	Liver
10	chr17:33862800-33869400	Weak transcription	Spleen	Spleen
11	chr17:33863000-33865000	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr17:33863000-33865600	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr17:33863200-33865000	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr17:33863200-33865200	Active TSS	Primary T cells fromperipheralblood	blood
15	chr17:33863800-33865000	Enhancers	Primary B cells from peripheral blood	blood
16	chr17:33864000-33865400	Enhancers	Fetal Stomach	stomach
17	chr17:33864000-33866000	Enhancers	K562	blood
18	chr17:33864000-33866600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:33864200-33865000	Enhancers	Primary hematopoietic stem cells	blood
20	chr17:33864200-33865200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:33864200-33866400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr17:33864200-33867200	Flanking Active TSS	Dnd41	blood
23	chr17:33864200-33867800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:33864400-33865200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:33864400-33865400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:33864400-33865400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr17:33864400-33865600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:33864400-33865600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:33864400-33866800	Weak transcription	Colon Smooth Muscle	Colon
30	chr17:33864400-33867800	Weak transcription	Placenta	Placenta
31	chr17:33864400-33867800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:33864600-33865000	Enhancers	Thymus	Thymus
33	chr17:33864600-33865400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr17:33864600-33865400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:33864600-33866400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr17:33864600-33867200	Weak transcription	Small Intestine	intestine
37	chr17:33864600-33867800	Weak transcription	Psoas Muscle	Psoas
38	chr17:33864600-33868000	Enhancers	Fetal Thymus	thymus
39	chr17:33864800-33865000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr17:33864800-33865400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
41	chr17:33864800-33865400	Active TSS	Duodenum Mucosa	Duodenum
42	chr17:33864800-33865400	Enhancers	HUVEC	blood vessel
43	chr17:33864800-33865600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr17:33864800-33865600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr17:33864800-33865800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr17:33864800-33866200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr17:33864800-33866600	Enhancers	Adipose Nuclei	Adipose
48	chr17:33864800-33866600	Enhancers	Fetal Lung	lung
49	chr17:33864800-33867600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr17:33864800-33867600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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