Variant report

Variant	rs73991950
Chromosome Location	chr17:59926423-59926424
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59924478..59926464-chr17:59949520..59951660,2	K562	blood:
2	chr17:59914601..59917042-chr17:59925140..59928901,4	MCF-7	breast:
3	chr17:59926015..59928593-chr17:59929394..59932297,2	K562	blood:
4	chr17:59926184..59926715-chr17:59936871..59937450,2	MCF-7	breast:
5	chr17:59923631..59927756-chr20:55841181..55844578,4	MCF-7	breast:
6	chr17:59926033..59928047-chr20:55791254..55794077,2	MCF-7	breast:
7	chr17:59727177..59731742-chr17:59925702..59928839,4	MCF-7	breast:
8	chr17:59922363..59930982-chr17:59932743..59942161,16	K562	blood:
9	chr17:59923960..59927363-chr20:60638070..60642811,4	MCF-7	breast:
10	chr17:59922988..59926695-chr17:59932114..59939260,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226308	Chromatin interaction
ENSG00000265306	Chromatin interaction
ENSG00000202361	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000136492	Chromatin interaction
ENSG00000130699	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2138005	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59176712	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7213469	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7213672	0.95[AFR][1000 genomes]
rs73991951	1.00[AMR][1000 genomes]
rs9900338	1.00[AMR][1000 genomes]
rs9900745	1.00[AMR][1000 genomes]
rs9908729	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9913705	1.00[AMR][1000 genomes]
rs9914236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv908673	chr17:59767501-59926645	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
3	nsv575842	chr17:59812748-59927307	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
4	nsv908675	chr17:59835864-59937286	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
5	nsv575843	chr17:59869081-59935723	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59870400-59933400	Weak transcription	Fetal Intestine Large	intestine
2	chr17:59884200-59933200	Weak transcription	K562	blood
3	chr17:59898800-59939600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr17:59898800-59939800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:59904200-59927000	Weak transcription	Fetal Kidney	kidney
6	chr17:59904800-59933200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr17:59905400-59931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr17:59905800-59939000	Weak transcription	Primary T cells from cord blood	blood
9	chr17:59906200-59940200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:59911600-59937800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr17:59911800-59939000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:59912000-59938400	Weak transcription	HUVEC	blood vessel
13	chr17:59912200-59939200	Weak transcription	HSMM	muscle
14	chr17:59912200-59939800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr17:59912400-59931400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:59912400-59931400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:59912400-59938600	Weak transcription	NHDF-Ad	bronchial
18	chr17:59912400-59938600	Weak transcription	NHEK	skin
19	chr17:59912400-59939400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr17:59912400-59940000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr17:59912400-59940400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:59914600-59932600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:59914600-59938600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr17:59916400-59931400	Strong transcription	Dnd41	blood
25	chr17:59916600-59938600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr17:59917800-59939200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr17:59918000-59939000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr17:59918800-59927400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr17:59919200-59927400	Strong transcription	A549	lung
30	chr17:59919200-59928000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr17:59919200-59928000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:59919400-59928400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr17:59919800-59934600	Weak transcription	Ovary	ovary
34	chr17:59920400-59940200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr17:59920600-59927000	Weak transcription	Fetal Lung	lung
36	chr17:59920600-59930600	Strong transcription	Fetal Thymus	thymus
37	chr17:59921200-59939800	Weak transcription	Thymus	Thymus
38	chr17:59921600-59927400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr17:59921600-59940000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr17:59922000-59937800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr17:59922200-59933000	Weak transcription	HMEC	breast
42	chr17:59922200-59938400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:59922200-59939000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:59922600-59931600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr17:59923000-59927200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr17:59923200-59928800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr17:59923200-59932200	Weak transcription	NH-A	brain
48	chr17:59923200-59938400	Weak transcription	Osteobl	bone
49	chr17:59923200-59939800	Weak transcription	Fetal Muscle Leg	muscle
50	chr17:59923400-59929200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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