Variant report

Variant	rs73992831
Chromosome Location	chr17:33865702-33865703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:33836676..33838220-chr17:33863138..33865744,2	K562	blood:
2	chr17:33865333..33868494-chr17:33903936..33906030,4	K562	blood:
3	chr17:33865333..33867975-chr17:33904009..33907160,3	K562	blood:
4	chr17:33865496..33867936-chr17:33913565..33917669,3	K562	blood:

Variant related genes	Relation type
ENSG00000006125	Chromatin interaction
ENSG00000108733	Chromatin interaction
ENSG00000267074	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs55864203	1.00[AMR][1000 genomes]
rs56101728	1.00[AMR][1000 genomes]
rs56118006	1.00[AMR][1000 genomes]
rs59005988	1.00[AMR][1000 genomes]
rs59274713	0.82[AFR][1000 genomes]
rs60495186	0.82[AFR][1000 genomes]
rs60575561	1.00[AMR][1000 genomes]
rs61285114	1.00[AMR][1000 genomes]
rs73989732	1.00[AMR][1000 genomes]
rs73990290	1.00[AMR][1000 genomes]
rs73990291	1.00[AMR][1000 genomes]
rs73990295	1.00[AMR][1000 genomes]
rs73992847	1.00[AMR][1000 genomes]
rs73992850	1.00[AMR][1000 genomes]
rs73992855	1.00[AMR][1000 genomes]
rs73992856	1.00[AMR][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

No data

Chromatin state (count:55 , 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	chr17:33860600-33866200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr17:33862800-33869400	Weak transcription	Spleen	Spleen
4	chr17:33864000-33866000	Enhancers	K562	blood
5	chr17:33864000-33866600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:33864200-33866400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr17:33864200-33867200	Flanking Active TSS	Dnd41	blood
8	chr17:33864200-33867800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:33864400-33866800	Weak transcription	Colon Smooth Muscle	Colon
10	chr17:33864400-33867800	Weak transcription	Placenta	Placenta
11	chr17:33864400-33867800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr17:33864600-33866400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr17:33864600-33867200	Weak transcription	Small Intestine	intestine
14	chr17:33864600-33867800	Weak transcription	Psoas Muscle	Psoas
15	chr17:33864600-33868000	Enhancers	Fetal Thymus	thymus
16	chr17:33864800-33865800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr17:33864800-33866200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr17:33864800-33866600	Enhancers	Adipose Nuclei	Adipose
19	chr17:33864800-33866600	Enhancers	Fetal Lung	lung
20	chr17:33864800-33867600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr17:33864800-33867600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr17:33864800-33867600	Weak transcription	Left Ventricle	heart
23	chr17:33864800-33867600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr17:33864800-33867800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:33864800-33867800	Weak transcription	Right Atrium	heart
26	chr17:33865000-33866400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr17:33865000-33866400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr17:33865000-33866800	Weak transcription	Thymus	Thymus
29	chr17:33865200-33866200	Flanking Active TSS	GM12878-XiMat	blood
30	chr17:33865200-33866600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr17:33865200-33866600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr17:33865200-33867600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr17:33865200-33867800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr17:33865400-33866000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr17:33865400-33866000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:33865400-33866000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr17:33865400-33866200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr17:33865400-33866400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr17:33865400-33866400	Weak transcription	Stomach Mucosa	stomach
40	chr17:33865400-33866400	Weak transcription	HUVEC	blood vessel
41	chr17:33865400-33866600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr17:33865400-33866600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr17:33865400-33866600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr17:33865400-33866600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr17:33865400-33868000	Weak transcription	Fetal Stomach	stomach
46	chr17:33865600-33866000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr17:33865600-33866000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr17:33865600-33866000	Weak transcription	Liver	Liver
49	chr17:33865600-33866200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr17:33865600-33866200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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