Variant report

Variant	rs60973024
Chromosome Location	chr15:57799189-57799190
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57696048..57697809-chr15:57796426..57799407,2	MCF-7	breast:
2	chr15:57797927..57800913-chr15:57801647..57804497,4	K562	blood:
3	chr15:57797159..57800107-chr15:57801647..57804598,2	K562	blood:
4	chr15:57668388..57670027-chr15:57798207..57800643,2	MCF-7	breast:
5	chr15:57797923..57800458-chr15:57801909..57803943,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252984	Chromatin interaction
ENSG00000128849	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1290244	1.00[EUR][1000 genomes]
rs16953334	1.00[EUR][1000 genomes]
rs16977546	1.00[EUR][1000 genomes]
rs16977553	1.00[EUR][1000 genomes]
rs16977555	1.00[EUR][1000 genomes]
rs16977563	1.00[EUR][1000 genomes]
rs16977581	1.00[EUR][1000 genomes]
rs16977583	1.00[EUR][1000 genomes]
rs16977584	1.00[EUR][1000 genomes]
rs16977600	1.00[EUR][1000 genomes]
rs28540249	1.00[EUR][1000 genomes]
rs28547400	1.00[EUR][1000 genomes]
rs28707698	1.00[EUR][1000 genomes]
rs55782827	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56091272	1.00[EUR][1000 genomes]
rs56179101	1.00[EUR][1000 genomes]
rs56810932	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58764014	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60234362	1.00[EUR][1000 genomes]
rs60767381	1.00[EUR][1000 genomes]
rs7167118	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7174185	1.00[EUR][1000 genomes]
rs7174359	1.00[EUR][1000 genomes]
rs73421833	1.00[EUR][1000 genomes]
rs73421838	1.00[EUR][1000 genomes]
rs73421863	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73421865	1.00[EUR][1000 genomes]
rs73421901	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73423506	0.82[AFR][1000 genomes]
rs73423507	1.00[EUR][1000 genomes]
rs73423512	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73423518	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73423522	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73423541	1.00[EUR][1000 genomes]
rs73423555	1.00[EUR][1000 genomes]
rs73423558	1.00[EUR][1000 genomes]
rs73423560	1.00[EUR][1000 genomes]
rs73423562	1.00[EUR][1000 genomes]
rs73423566	1.00[EUR][1000 genomes]
rs73423591	1.00[EUR][1000 genomes]
rs74016229	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74016236	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74018224	1.00[EUR][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	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv833022	chr15:57657412-57830112	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1045620	chr15:57680733-57804237	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2763103	chr15:57781577-57799765	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv904255	chr15:57790436-57907574	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57779400-57800800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr15:57787200-57802000	Weak transcription	Aorta	Aorta
3	chr15:57789800-57801600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:57790000-57808600	Weak transcription	Fetal Brain Male	brain
5	chr15:57790200-57801400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:57793000-57799400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:57793200-57799400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:57793200-57800200	Enhancers	Stomach Mucosa	stomach
9	chr15:57793400-57803200	Enhancers	Placenta	Placenta
10	chr15:57793600-57801000	Weak transcription	HSMMtube	muscle
11	chr15:57793600-57803200	Enhancers	Fetal Intestine Small	intestine
12	chr15:57793800-57802000	Enhancers	Fetal Intestine Large	intestine
13	chr15:57794200-57808800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:57795200-57800400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:57795200-57801600	Weak transcription	Small Intestine	intestine
16	chr15:57795400-57800800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:57795600-57800200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:57795600-57801200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:57795800-57800800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr15:57796000-57800200	Enhancers	Fetal Stomach	stomach
21	chr15:57796200-57799400	Enhancers	HUVEC	blood vessel
22	chr15:57796200-57800400	Enhancers	Fetal Kidney	kidney
23	chr15:57796400-57799600	Enhancers	Fetal Lung	lung
24	chr15:57796600-57800600	Weak transcription	Liver	Liver
25	chr15:57796800-57799200	Enhancers	Duodenum Mucosa	Duodenum
26	chr15:57797000-57799400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr15:57797000-57801600	Weak transcription	Right Ventricle	heart
28	chr15:57797000-57814000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr15:57797000-57827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:57797200-57802000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr15:57797200-57802400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr15:57797400-57801200	Weak transcription	Gastric	stomach
33	chr15:57797800-57801200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr15:57797800-57802600	Weak transcription	Osteobl	bone
35	chr15:57798000-57800800	Weak transcription	Lung	lung
36	chr15:57798000-57801200	Weak transcription	Esophagus	oesophagus
37	chr15:57798000-57801800	Weak transcription	Brain Substantia Nigra	brain
38	chr15:57798000-57802000	Weak transcription	Brain Hippocampus Middle	brain
39	chr15:57798000-57802400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr15:57798000-57805200	Enhancers	Fetal Heart	heart
41	chr15:57798200-57799400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr15:57798400-57801000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr15:57798400-57809400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr15:57798600-57800000	Enhancers	NHEK	skin
45	chr15:57798600-57800600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:57798600-57801000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:57798600-57801400	Weak transcription	HMEC	breast
48	chr15:57798600-57808600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr15:57798800-57800400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr15:57798800-57800800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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