Variant report

Variant	rs6493030
Chromosome Location	chr15:42562476-42562477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42559733..42563310-chr15:42678634..42681534,3	K562	blood:
2	chr15:42544904..42547005-chr15:42561537..42563318,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11070369	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv832985	chr15:42371482-42564966	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv1807328	chr15:42525300-42573278	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv904133	chr15:42528982-42681057	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42500800-42563200	Weak transcription	Stomach Mucosa	stomach
2	chr15:42519400-42562800	Weak transcription	Fetal Heart	heart
3	chr15:42545600-42563400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr15:42546000-42564600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:42546200-42564600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:42547000-42564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:42547600-42563400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:42549600-42564400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:42551000-42563400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:42551800-42564600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:42552400-42563400	Weak transcription	Brain Angular Gyrus	brain
12	chr15:42552600-42564600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:42552600-42565000	Weak transcription	Gastric	stomach
14	chr15:42552600-42565200	Weak transcription	Spleen	Spleen
15	chr15:42552800-42564600	Weak transcription	Aorta	Aorta
16	chr15:42552800-42564600	Weak transcription	Esophagus	oesophagus
17	chr15:42552800-42564600	Weak transcription	Right Ventricle	heart
18	chr15:42556000-42562600	Weak transcription	Ovary	ovary
19	chr15:42556000-42563000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr15:42556000-42563600	Weak transcription	Fetal Stomach	stomach
21	chr15:42556000-42564600	Weak transcription	Lung	lung
22	chr15:42556000-42565000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:42556200-42564600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr15:42557200-42563400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:42557400-42562800	Weak transcription	NHLF	lung
26	chr15:42557400-42563200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr15:42557600-42562800	Weak transcription	K562	blood
28	chr15:42557600-42563200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:42557800-42563400	Weak transcription	Fetal Brain Female	brain
30	chr15:42558200-42562600	Weak transcription	Small Intestine	intestine
31	chr15:42558200-42562800	Weak transcription	Brain Substantia Nigra	brain
32	chr15:42558400-42563000	Weak transcription	Fetal Brain Male	brain
33	chr15:42558400-42564200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:42558400-42564600	Weak transcription	Psoas Muscle	Psoas
35	chr15:42558600-42563400	Weak transcription	Brain Germinal Matrix	brain
36	chr15:42558600-42564600	Weak transcription	Thymus	Thymus
37	chr15:42559200-42563400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr15:42559400-42564400	Weak transcription	Fetal Muscle Leg	muscle
39	chr15:42559400-42564400	Weak transcription	HSMMtube	muscle
40	chr15:42559400-42564600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr15:42559600-42562600	Weak transcription	Brain Anterior Caudate	brain
42	chr15:42559800-42564200	Weak transcription	Fetal Kidney	kidney
43	chr15:42560200-42563000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr15:42560400-42562600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr15:42560400-42562800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:42560400-42563200	Weak transcription	NHDF-Ad	bronchial
47	chr15:42560400-42563400	Weak transcription	Primary T cells from cord blood	blood
48	chr15:42560400-42563400	Weak transcription	Fetal Lung	lung
49	chr15:42560400-42563400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr15:42560600-42562600	Weak transcription	HepG2	liver

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