Variant report

Variant	rs73979049
Chromosome Location	chr17:16931531-16931532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16931293..16933179-chr17:16934223..16937186,2	MCF-7	breast:
2	chr17:16930112..16931615-chr17:16942008..16944719,2	K562	blood:
3	chr17:16931372..16933195-chr17:16979927..16982548,2	MCF-7	breast:
4	chr17:16931173..16933175-chr17:17108970..17110599,2	K562	blood:
5	chr17:16924719..16926363-chr17:16928237..16932446,3	MCF-7	breast:
6	chr17:16904092..16907044-chr17:16930901..16933093,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225442	Chromatin interaction
ENSG00000179598	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10048152	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1131632	1.00[EUR][1000 genomes]
rs16961406	1.00[EUR][1000 genomes]
rs28829096	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4485421	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55792503	1.00[EUR][1000 genomes]
rs56247606	1.00[EUR][1000 genomes]
rs56343767	1.00[EUR][1000 genomes]
rs56912118	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58169814	1.00[EUR][1000 genomes]
rs58442149	1.00[EUR][1000 genomes]
rs58690840	1.00[EUR][1000 genomes]
rs58702370	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60029796	1.00[EUR][1000 genomes]
rs60192272	1.00[EUR][1000 genomes]
rs60332371	1.00[EUR][1000 genomes]
rs60364428	1.00[EUR][1000 genomes]
rs60545734	1.00[EUR][1000 genomes]
rs60697210	1.00[EUR][1000 genomes]
rs60890438	1.00[EUR][1000 genomes]
rs61024568	1.00[EUR][1000 genomes]
rs61218165	1.00[EUR][1000 genomes]
rs61608940	1.00[EUR][1000 genomes]
rs7219836	1.00[EUR][1000 genomes]
rs7223145	1.00[EUR][1000 genomes]
rs7223758	1.00[EUR][1000 genomes]
rs72637385	0.84[AFR][1000 genomes]
rs73979025	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979028	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979045	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979046	1.00[EUR][1000 genomes]
rs73979048	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979056	1.00[EUR][1000 genomes]
rs73979057	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73979063	1.00[EUR][1000 genomes]
rs73979079	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73979080	1.00[EUR][1000 genomes]
rs73979085	0.80[AFR][1000 genomes]
rs73979088	1.00[EUR][1000 genomes]
rs73979096	1.00[EUR][1000 genomes]
rs73979097	1.00[EUR][1000 genomes]
rs73981903	1.00[EUR][1000 genomes]
rs73981904	1.00[EUR][1000 genomes]
rs8079021	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	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv907727	chr17:16892265-16938582	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv543231	chr17:16926227-16950644	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16925600-16931800	Weak transcription	Osteobl	bone
2	chr17:16928600-16931800	Weak transcription	Adipose Nuclei	Adipose
3	chr17:16928600-16933800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr17:16928800-16934000	Enhancers	Fetal Intestine Large	intestine
5	chr17:16929000-16931600	Weak transcription	Right Atrium	heart
6	chr17:16929200-16931600	Weak transcription	Left Ventricle	heart
7	chr17:16929400-16932000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr17:16929400-16932200	Weak transcription	Fetal Thymus	thymus
9	chr17:16929600-16931600	Weak transcription	Fetal Kidney	kidney
10	chr17:16929800-16931600	Weak transcription	Fetal Lung	lung
11	chr17:16930200-16931600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:16930200-16936200	Enhancers	Fetal Muscle Leg	muscle
13	chr17:16930400-16934000	Enhancers	Fetal Intestine Small	intestine
14	chr17:16930400-16934000	Enhancers	Stomach Mucosa	stomach
15	chr17:16930400-16934400	Enhancers	Placenta	Placenta
16	chr17:16930400-16936600	Enhancers	Fetal Muscle Trunk	muscle
17	chr17:16930600-16931600	Enhancers	Esophagus	oesophagus
18	chr17:16930600-16931800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr17:16930600-16933000	Enhancers	Gastric	stomach
20	chr17:16930600-16933200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:16930600-16933600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr17:16930600-16934400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr17:16930600-16936000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr17:16930600-16936200	Enhancers	HMEC	breast
25	chr17:16930600-16937600	Enhancers	HSMMtube	muscle
26	chr17:16930800-16931600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr17:16930800-16931600	Enhancers	HSMM	muscle
28	chr17:16930800-16931800	Enhancers	Brain Cingulate Gyrus	brain
29	chr17:16930800-16931800	Enhancers	Colonic Mucosa	Colon
30	chr17:16930800-16932000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:16930800-16932000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:16930800-16932200	Enhancers	Brain Hippocampus Middle	brain
33	chr17:16930800-16932400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:16930800-16932400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr17:16930800-16932400	Enhancers	Spleen	Spleen
36	chr17:16930800-16932400	Enhancers	NH-A	brain
37	chr17:16930800-16932800	Enhancers	Pancreas	Pancrea
38	chr17:16930800-16933000	Enhancers	Lung	lung
39	chr17:16930800-16933200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr17:16930800-16933200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr17:16930800-16933400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:16930800-16933600	Flanking Active TSS	HepG2	liver
43	chr17:16930800-16933800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr17:16930800-16935800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr17:16930800-16936000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr17:16931000-16932400	Enhancers	Fetal Heart	heart
47	chr17:16931000-16932400	Enhancers	Small Intestine	intestine
48	chr17:16931000-16933000	Flanking Active TSS	A549	lung
49	chr17:16931000-16934000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr17:16931000-16934200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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