Variant report

Variant	rs2414512
Chromosome Location	chr15:57827348-57827349
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	chr15:57819966..57822646-chr15:57824885..57827415,2	K562	blood:
2	chr15:57817814..57821842-chr15:57824294..57827570,5	K562	blood:

Variant related genes	Relation type
ENSG00000261265	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10518926	0.86[CHB][hapmap];0.80[JPT][hapmap];0.91[ASN][1000 genomes]
rs2172607	0.95[YRI][hapmap]
rs2279605	0.91[CHB][hapmap];0.80[JPT][hapmap];0.91[ASN][1000 genomes]
rs2279607	0.91[CHB][hapmap];0.80[JPT][hapmap];0.87[MEX][hapmap];0.90[ASN][1000 genomes]
rs7182268	0.95[YRI][hapmap]
rs9989336	0.80[JPT][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57802600-57846600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:57803200-57842800	Weak transcription	Aorta	Aorta
3	chr15:57811000-57827800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:57817200-57827800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:57819200-57841000	Weak transcription	Esophagus	oesophagus
6	chr15:57819800-57829200	Weak transcription	Ovary	ovary
7	chr15:57819800-57833000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:57819800-57840000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:57820200-57829200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:57820200-57829400	Weak transcription	Brain Angular Gyrus	brain
11	chr15:57820600-57834000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:57821800-57842800	Strong transcription	Liver	Liver
13	chr15:57822400-57829000	Weak transcription	Gastric	stomach
14	chr15:57822600-57829200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr15:57822800-57833000	Weak transcription	HepG2	liver
16	chr15:57822800-57834000	Weak transcription	Colon Smooth Muscle	Colon
17	chr15:57823000-57827600	Enhancers	Fetal Heart	heart
18	chr15:57823000-57828800	Weak transcription	Pancreas	Pancrea
19	chr15:57823600-57828800	Weak transcription	HSMMtube	muscle
20	chr15:57824400-57827600	Enhancers	Fetal Lung	lung
21	chr15:57824800-57827400	Enhancers	Brain Anterior Caudate	brain
22	chr15:57824800-57827400	Enhancers	Placenta	Placenta
23	chr15:57825000-57827800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:57825000-57835800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr15:57825200-57827400	Enhancers	Left Ventricle	heart
26	chr15:57825400-57828600	Weak transcription	Fetal Kidney	kidney
27	chr15:57825400-57831200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr15:57825800-57827400	Enhancers	Fetal Muscle Leg	muscle
29	chr15:57825800-57827400	Enhancers	NHDF-Ad	bronchial
30	chr15:57825800-57827600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:57825800-57828000	Enhancers	Spleen	Spleen
32	chr15:57826000-57834200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr15:57826200-57827400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr15:57826200-57827600	Enhancers	Fetal Stomach	stomach
35	chr15:57826200-57827600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr15:57826200-57829000	Weak transcription	Right Atrium	heart
37	chr15:57826200-57829200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr15:57826200-57829200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr15:57826200-57829200	Weak transcription	Brain Substantia Nigra	brain
40	chr15:57826200-57829200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr15:57826600-57827400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr15:57826600-57827400	Enhancers	HUVEC	blood vessel
43	chr15:57826600-57829000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:57826600-57829000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:57826800-57828200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr15:57826800-57828800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:57826800-57829200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:57826800-57829200	Weak transcription	Fetal Intestine Small	intestine
49	chr15:57827000-57828600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr15:57827000-57828800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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