Variant report

Variant	rs17638076
Chromosome Location	chr17:33896273-33896274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr17:33896204-33896868	K562	blood:	n/a	n/a
2	MYC	chr17:33896264-33896854	K562	blood:	n/a	n/a
3	MXI1	chr17:33896200-33896806	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:33891810..33896606-chr17:33903023..33907452,11	MCF-7	breast:
2	chr17:33870974..33872965-chr17:33896270..33898076,2	K562	blood:
3	chr17:33893246..33896592-chr17:33904977..33907170,4	MCF-7	breast:
4	chr17:33893761..33897248-chr17:33899377..33902990,5	MCF-7	breast:
5	chr17:33895183..33897517-chr17:33934018..33936471,2	K562	blood:
6	chr17:33893251..33894789-chr17:33895372..33897499,2	MCF-7	breast:
7	chr17:33891678..33894359-chr17:33894876..33897610,2	MCF-7	breast:
8	chr17:33894766..33896836-chr17:33913022..33916399,3	MCF-7	breast:
9	chr17:33895776..33896317-chr3:54073563..54074128,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SNORD7	TF binding region
ENSG00000207297	Chromatin interaction
ENSG00000006125	Chromatin interaction
ENSG00000108733	Chromatin interaction
ENSG00000242660	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11650225	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650621	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651380	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11652390	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11653354	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654542	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11656872	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657558	1.00[ASN][1000 genomes]
rs12936539	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12936693	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12939138	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12939481	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940422	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12943224	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945102	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945980	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12947274	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12949877	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12951703	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17606150	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17608253	1.00[ASN][1000 genomes]
rs17669281	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670584	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670614	0.81[EUR][1000 genomes]
rs17676508	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34063751	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34874930	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34937989	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3506	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35209981	0.85[AFR][1000 genomes]
rs35390377	0.85[AFR][1000 genomes]
rs35515868	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35672532	1.00[ASN][1000 genomes]
rs35774966	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4531775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61752107	0.80[AFR][1000 genomes]
rs71381460	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71381461	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71381464	0.81[AFR][1000 genomes]
rs71381465	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71381467	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71381469	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33894000-33896400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr17:33894000-33896400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr17:33894000-33896400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr17:33894000-33897000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr17:33894200-33896400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr17:33894200-33896400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:33894200-33896400	Active TSS	Psoas Muscle	Psoas
8	chr17:33894200-33896600	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr17:33894200-33896600	Active TSS	A549	lung
10	chr17:33894200-33896600	Active TSS	K562	blood
11	chr17:33894200-33897000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr17:33894400-33896400	Active TSS	Right Ventricle	heart
13	chr17:33894400-33897200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:33894600-33896400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:33895200-33896400	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr17:33895200-33896400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr17:33895200-33896400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:33895200-33896400	Flanking Active TSS	Liver	Liver
19	chr17:33895200-33896400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr17:33895200-33896400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr17:33895400-33896400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr17:33895400-33896400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr17:33895400-33896400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:33895400-33896400	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr17:33895400-33896400	Flanking Active TSS	Colonic Mucosa	Colon
26	chr17:33895400-33896400	Flanking Active TSS	Osteobl	bone
27	chr17:33895400-33896600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr17:33895400-33897000	Flanking Active TSS	Fetal Lung	lung
29	chr17:33895400-33897200	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr17:33895600-33896400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr17:33895600-33896400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr17:33895600-33896400	Flanking Active TSS	Fetal Brain Male	brain
33	chr17:33895600-33896400	Flanking Active TSS	HUVEC	blood vessel
34	chr17:33895600-33896800	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr17:33895600-33897000	Flanking Active TSS	Dnd41	blood
36	chr17:33895600-33897600	Enhancers	Spleen	Spleen
37	chr17:33895800-33896400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:33895800-33896400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr17:33895800-33896400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr17:33895800-33896400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr17:33895800-33896400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:33895800-33896400	Enhancers	Lung	lung
43	chr17:33895800-33896400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr17:33895800-33896400	Enhancers	Stomach Mucosa	stomach
45	chr17:33895800-33896400	Flanking Active TSS	NH-A	brain
46	chr17:33895800-33896600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr17:33895800-33896600	Enhancers	Small Intestine	intestine
48	chr17:33895800-33896600	Active TSS	HepG2	liver
49	chr17:33895800-33896800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:33895800-33896800	Enhancers	Primary B cells from peripheral blood	blood

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