Variant report

Variant	rs4991997
Chromosome Location	chr15:78280683-78280684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78279643..78281604-chr15:78403456..78405899,2	K562	blood:

Variant related genes	Relation type
ENSG00000136425	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10519182	0.88[EUR][1000 genomes]
rs16969405	0.88[EUR][1000 genomes]
rs16969407	0.88[EUR][1000 genomes]
rs16969408	0.88[EUR][1000 genomes]
rs16969414	0.88[EUR][1000 genomes]
rs1985487	0.88[EUR][1000 genomes]
rs28441175	0.88[EUR][1000 genomes]
rs28451835	0.88[EUR][1000 genomes]
rs28470811	0.88[EUR][1000 genomes]
rs28491609	0.83[EUR][1000 genomes]
rs28526757	0.88[EUR][1000 genomes]
rs28674965	0.88[EUR][1000 genomes]
rs55663439	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55930913	0.88[EUR][1000 genomes]
rs57949748	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58098690	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58117418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7167778	0.88[EUR][1000 genomes]
rs74027705	0.88[EUR][1000 genomes]
rs74027706	0.88[EUR][1000 genomes]
rs74027709	0.88[EUR][1000 genomes]
rs74029743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74029754	0.88[EUR][1000 genomes]
rs7495105	0.96[AFR][1000 genomes]
rs7495639	0.88[EUR][1000 genomes]
rs9920647	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78268400-78281800	Weak transcription	Right Atrium	heart
2	chr15:78271800-78282400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:78276000-78285200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:78276600-78280800	Weak transcription	Right Ventricle	heart
5	chr15:78276600-78282800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:78277600-78285600	Enhancers	Placenta	Placenta
7	chr15:78277800-78282400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr15:78278400-78288800	Enhancers	Fetal Muscle Leg	muscle
9	chr15:78278600-78280800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:78278600-78281000	Enhancers	Brain Angular Gyrus	brain
11	chr15:78279200-78280800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:78279200-78281000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:78279200-78281200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:78279200-78281200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr15:78279400-78280800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:78279400-78280800	Enhancers	Brain Substantia Nigra	brain
17	chr15:78279400-78281000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr15:78279400-78282600	Enhancers	Esophagus	oesophagus
19	chr15:78279400-78287600	Enhancers	Fetal Heart	heart
20	chr15:78279400-78287800	Enhancers	Adipose Nuclei	Adipose
21	chr15:78279400-78289800	Enhancers	Ovary	ovary
22	chr15:78279600-78281000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:78279600-78281400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr15:78279600-78282400	Weak transcription	HMEC	breast
25	chr15:78279600-78283200	Weak transcription	Brain Germinal Matrix	brain
26	chr15:78279800-78280800	Weak transcription	Left Ventricle	heart
27	chr15:78279800-78281400	Enhancers	Gastric	stomach
28	chr15:78279800-78282000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr15:78279800-78282600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:78279800-78282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr15:78279800-78283400	Enhancers	Stomach Smooth Muscle	stomach
32	chr15:78279800-78289600	Weak transcription	Fetal Brain Female	brain
33	chr15:78280000-78280800	Enhancers	Stomach Mucosa	stomach
34	chr15:78280000-78280800	Enhancers	Hela-S3	cervix
35	chr15:78280000-78281000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:78280000-78281000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:78280000-78282000	Weak transcription	HSMMtube	muscle
38	chr15:78280000-78282400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr15:78280000-78282600	Weak transcription	Colon Smooth Muscle	Colon
40	chr15:78280000-78282800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr15:78280000-78282800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:78280000-78282800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr15:78280000-78282800	Weak transcription	A549	lung
44	chr15:78280000-78283000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr15:78280000-78284400	Enhancers	Spleen	Spleen
46	chr15:78280000-78285400	Enhancers	Fetal Thymus	thymus
47	chr15:78280000-78290400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:78280200-78281000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:78280200-78281000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr15:78280200-78282200	Weak transcription	Brain Hippocampus Middle	brain

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