Variant report

Variant	rs71478629
Chromosome Location	chr15:57801892-57801893
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	chr15:57801026..57803220-chr15:57837290..57839682,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10220745	0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12913924	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2414509	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2922233	0.82[ASN][1000 genomes]
rs34583339	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57787200-57802000	Weak transcription	Aorta	Aorta
2	chr15:57790000-57808600	Weak transcription	Fetal Brain Male	brain
3	chr15:57793400-57803200	Enhancers	Placenta	Placenta
4	chr15:57793600-57803200	Enhancers	Fetal Intestine Small	intestine
5	chr15:57793800-57802000	Enhancers	Fetal Intestine Large	intestine
6	chr15:57794200-57808800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:57797000-57814000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:57797000-57827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:57797200-57802000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr15:57797200-57802400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:57797800-57802600	Weak transcription	Osteobl	bone
12	chr15:57798000-57802000	Weak transcription	Brain Hippocampus Middle	brain
13	chr15:57798000-57802400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:57798000-57805200	Enhancers	Fetal Heart	heart
15	chr15:57798400-57809400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:57798600-57808600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:57799000-57802800	Weak transcription	Brain Anterior Caudate	brain
18	chr15:57799000-57809000	Weak transcription	HepG2	liver
19	chr15:57799400-57802000	Weak transcription	HUVEC	blood vessel
20	chr15:57800000-57803400	Enhancers	Primary B cells from peripheral blood	blood
21	chr15:57800200-57802200	Weak transcription	Stomach Mucosa	stomach
22	chr15:57800600-57802800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:57800600-57802800	Enhancers	Primary B cells from cord blood	blood
24	chr15:57800600-57803200	Enhancers	Pancreas	Pancrea
25	chr15:57800800-57802000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:57800800-57802000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr15:57800800-57802000	Enhancers	Lung	lung
28	chr15:57800800-57803000	Enhancers	Fetal Kidney	kidney
29	chr15:57800800-57803200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:57800800-57803200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr15:57800800-57803200	Enhancers	Fetal Muscle Trunk	muscle
32	chr15:57800800-57803200	Enhancers	Fetal Muscle Leg	muscle
33	chr15:57801000-57802000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr15:57801000-57802000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:57801000-57802200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:57801200-57802000	Enhancers	NHDF-Ad	bronchial
37	chr15:57801200-57802600	Enhancers	HSMM	muscle
38	chr15:57801200-57802800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr15:57801200-57803200	Enhancers	Fetal Stomach	stomach
40	chr15:57801200-57803200	Enhancers	Gastric	stomach
41	chr15:57801200-57803200	Enhancers	Stomach Smooth Muscle	stomach
42	chr15:57801200-57803600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr15:57801400-57802000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr15:57801400-57802800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:57801400-57802800	Enhancers	NHEK	skin
46	chr15:57801400-57803200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:57801400-57803200	Enhancers	Ovary	ovary
48	chr15:57801400-57803200	Enhancers	HMEC	breast
49	chr15:57801400-57803600	Enhancers	Fetal Lung	lung
50	chr15:57801600-57802000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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