Variant report

Variant	rs73985186
Chromosome Location	chr17:45776151-45776152
allele	C/T
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45727519..45729329-chr17:45774506..45776339,2	K562	blood:
2	chr17:45775846..45776800-chr17:45879542..45880409,3	K562	blood:
3	chr17:45775947..45777166-chr17:45867364..45868043,3	MCF-7	breast:
4	chr17:45775717..45776971-chr17:45794268..45795096,4	K562	blood:
5	chr17:45724693..45730044-chr17:45766323..45778247,15	K562	blood:
6	chr17:45775849..45776840-chr17:45822088..45822676,3	K562	blood:
7	chr17:45775925..45776750-chr17:45879490..45880343,4	MCF-7	breast:
8	chr17:45775877..45776817-chr17:45819683..45820464,4	K562	blood:
9	chr17:45775995..45777738-chr17:45793408..45795168,2	MCF-7	breast:
10	chr17:45775927..45776860-chr17:45794556..45795445,3	MCF-7	breast:
11	chr17:45776090..45776801-chr17:45853377..45854201,2	MCF-7	breast:
12	chr17:45775840..45777149-chr17:45867146..45868057,3	MCF-7	breast:
13	chr17:45776082..45776797-chr17:45819318..45820257,2	MCF-7	breast:
14	chr17:45776091..45776771-chr17:45818187..45818862,2	MCF-7	breast:
15	chr17:45774681..45778561-chr17:45877858..45880734,4	MCF-7	breast:
16	chr17:45775756..45776817-chr17:45879865..45880743,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108424	Chromatin interaction
ENSG00000263766	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56239340	1.00[EUR][1000 genomes]
rs57483258	1.00[EUR][1000 genomes]
rs73319718	1.00[EUR][1000 genomes]
rs73985163	1.00[EUR][1000 genomes]
rs73985189	1.00[EUR][1000 genomes]
rs73988809	1.00[EUR][1000 genomes]
rs73988811	1.00[EUR][1000 genomes]
rs73988823	1.00[EUR][1000 genomes]
rs73988830	1.00[EUR][1000 genomes]
rs73988840	1.00[EUR][1000 genomes]
rs73988847	1.00[EUR][1000 genomes]
rs73988853	1.00[EUR][1000 genomes]
rs8066161	1.00[EUR][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	nsv9570	chr17:45770873-45779791	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45772600-45776800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr17:45772600-45777800	Weak transcription	Aorta	Aorta
3	chr17:45772600-45783600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:45772800-45783800	Weak transcription	HSMMtube	muscle
5	chr17:45772800-45783800	Weak transcription	NHDF-Ad	bronchial
6	chr17:45773000-45776600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:45773000-45776600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr17:45773000-45778400	Weak transcription	K562	blood
9	chr17:45773000-45778800	Weak transcription	NH-A	brain
10	chr17:45773000-45779000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:45773000-45779600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr17:45773000-45782000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr17:45773000-45783800	Weak transcription	Brain Angular Gyrus	brain
14	chr17:45773200-45776400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr17:45773200-45776400	Genic enhancers	Spleen	Spleen
16	chr17:45773200-45776600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:45773200-45776600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr17:45773200-45777800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr17:45773200-45777800	Weak transcription	Fetal Intestine Large	intestine
20	chr17:45773200-45781400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr17:45773200-45781400	Weak transcription	NHEK	skin
22	chr17:45773200-45782200	Weak transcription	Brain Substantia Nigra	brain
23	chr17:45773200-45783600	Weak transcription	Brain Anterior Caudate	brain
24	chr17:45773200-45783600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr17:45773400-45776200	Weak transcription	Ovary	ovary
26	chr17:45773400-45776400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr17:45773400-45776600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr17:45773400-45776800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:45773400-45777800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:45773400-45778400	Weak transcription	GM12878-XiMat	blood
31	chr17:45773400-45779600	Weak transcription	Primary T cells from cord blood	blood
32	chr17:45773400-45779600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr17:45773400-45780800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr17:45773400-45781800	Weak transcription	Psoas Muscle	Psoas
35	chr17:45773400-45783800	Weak transcription	Colon Smooth Muscle	Colon
36	chr17:45773400-45783800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr17:45773400-45784800	Weak transcription	Osteobl	bone
38	chr17:45773400-45785600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr17:45773400-45790600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr17:45773600-45776400	Weak transcription	Colonic Mucosa	Colon
41	chr17:45773600-45776600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:45773600-45779400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:45773600-45780000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr17:45773600-45780000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr17:45773600-45783800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:45773800-45777800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr17:45773800-45777800	Weak transcription	HUVEC	blood vessel
48	chr17:45773800-45779000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr17:45773800-45779200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr17:45774000-45776400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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