Variant report

Variant	rs73423512
Chromosome Location	chr15:57802921-57802922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57797927..57800913-chr15:57801647..57804497,4	K562	blood:
2	chr15:57797159..57800107-chr15:57801647..57804598,2	K562	blood:
3	chr15:57797923..57800458-chr15:57801909..57803943,2	MCF-7	breast:
4	chr15:57801026..57803220-chr15:57837290..57839682,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10851616	0.82[AFR][1000 genomes]
rs11630712	0.81[AFR][1000 genomes]
rs11630740	0.81[AFR][1000 genomes]
rs11634739	0.81[AFR][1000 genomes]
rs12439099	0.81[AFR][1000 genomes]
rs12439126	0.81[AFR][1000 genomes]
rs1290244	1.00[EUR][1000 genomes]
rs16953334	1.00[EUR][1000 genomes]
rs16977546	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16977553	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16977555	0.91[AFR][1000 genomes];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]
rs2172613	0.82[AFR][1000 genomes]
rs28540249	1.00[EUR][1000 genomes]
rs28547400	1.00[EUR][1000 genomes]
rs28707698	1.00[EUR][1000 genomes]
rs55782827	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56091272	1.00[EUR][1000 genomes]
rs56179101	1.00[EUR][1000 genomes]
rs56810932	1.00[EUR][1000 genomes]
rs58764014	1.00[EUR][1000 genomes]
rs60234362	1.00[EUR][1000 genomes]
rs60767381	1.00[EUR][1000 genomes]
rs60973024	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7167118	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7174185	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7174359	1.00[EUR][1000 genomes]
rs73421833	1.00[EUR][1000 genomes]
rs73421838	1.00[EUR][1000 genomes]
rs73421863	1.00[EUR][1000 genomes]
rs73421865	1.00[EUR][1000 genomes]
rs73421901	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73423506	1.00[AFR][1000 genomes]
rs73423507	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73423518	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73423522	1.00[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	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74016236	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74018224	1.00[EUR][1000 genomes]
rs7496403	0.81[AFR][1000 genomes]
rs933839	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57790000-57808600	Weak transcription	Fetal Brain Male	brain
2	chr15:57793400-57803200	Enhancers	Placenta	Placenta
3	chr15:57793600-57803200	Enhancers	Fetal Intestine Small	intestine
4	chr15:57794200-57808800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:57797000-57814000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr15:57797000-57827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:57798000-57805200	Enhancers	Fetal Heart	heart
8	chr15:57798400-57809400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:57798600-57808600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:57799000-57809000	Weak transcription	HepG2	liver
11	chr15:57800000-57803400	Enhancers	Primary B cells from peripheral blood	blood
12	chr15:57800600-57803200	Enhancers	Pancreas	Pancrea
13	chr15:57800800-57803000	Enhancers	Fetal Kidney	kidney
14	chr15:57800800-57803200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:57800800-57803200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr15:57800800-57803200	Enhancers	Fetal Muscle Trunk	muscle
17	chr15:57800800-57803200	Enhancers	Fetal Muscle Leg	muscle
18	chr15:57801200-57803200	Enhancers	Fetal Stomach	stomach
19	chr15:57801200-57803200	Enhancers	Gastric	stomach
20	chr15:57801200-57803200	Enhancers	Stomach Smooth Muscle	stomach
21	chr15:57801200-57803600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:57801400-57803200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:57801400-57803200	Enhancers	Ovary	ovary
24	chr15:57801400-57803200	Enhancers	HMEC	breast
25	chr15:57801400-57803600	Enhancers	Fetal Lung	lung
26	chr15:57801600-57803000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr15:57801600-57803200	Enhancers	Right Ventricle	heart
28	chr15:57801600-57803400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:57801600-57808800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:57801800-57803200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:57801800-57808400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr15:57801800-57808800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr15:57801800-57808800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr15:57801800-57809000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr15:57801800-57819000	Weak transcription	Esophagus	oesophagus
36	chr15:57802000-57803000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:57802000-57803200	Enhancers	Aorta	Aorta
38	chr15:57802000-57804000	Enhancers	HUVEC	blood vessel
39	chr15:57802000-57807400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr15:57802000-57808600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr15:57802000-57808800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr15:57802000-57810600	Weak transcription	Fetal Brain Female	brain
43	chr15:57802000-57819600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr15:57802200-57803000	Enhancers	Fetal Thymus	thymus
45	chr15:57802200-57803600	Enhancers	NH-A	brain
46	chr15:57802200-57804600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:57802200-57805800	Enhancers	Stomach Mucosa	stomach
48	chr15:57802400-57803000	Enhancers	Fetal Intestine Large	intestine
49	chr15:57802400-57803000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr15:57802400-57803200	Enhancers	Left Ventricle	heart

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