Variant report

Variant	rs2332327
Chromosome Location	chr14:24844502-24844503
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24844454-24844521	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
2	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
3	chr14:24837386..24841607-chr14:24843315..24846573,5	K562	blood:
4	chr14:24834749..24836813-chr14:24843858..24845467,2	K562	blood:
5	chr14:24842116..24850865-chr14:24857760..24868159,21	MCF-7	breast:

No data

Variant related genes	Relation type
NFATC4	TF binding region
ENSG00000100968	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000205978	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000100445	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10129213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[ASN][1000 genomes]
rs10141527	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151147	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11846223	0.82[CHB][hapmap]
rs12590407	0.92[YRI][hapmap]
rs1950500	0.92[YRI][hapmap]
rs1955915	0.81[YRI][hapmap]
rs2144490	1.00[YRI][hapmap]
rs2243891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332326	0.84[AFR][1000 genomes]
rs4982902	0.80[AFR][1000 genomes]
rs954134	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs982975	0.82[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24838200-24850200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:24838600-24845600	Weak transcription	Right Atrium	heart
3	chr14:24838600-24846600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:24838800-24845000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr14:24838800-24845600	Weak transcription	Brain Germinal Matrix	brain
6	chr14:24838800-24846000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:24838800-24846400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:24838800-24846600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr14:24838800-24847600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:24838800-24848000	Weak transcription	Pancreas	Pancrea
11	chr14:24838800-24849600	Weak transcription	Fetal Brain Female	brain
12	chr14:24838800-24850600	Weak transcription	Fetal Kidney	kidney
13	chr14:24839000-24845400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:24839000-24845400	Weak transcription	Right Ventricle	heart
15	chr14:24839000-24847000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:24839600-24846800	Weak transcription	Lung	lung
17	chr14:24839600-24847000	Genic enhancers	Fetal Muscle Leg	muscle
18	chr14:24839800-24847200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:24840000-24845200	Weak transcription	Fetal Thymus	thymus
20	chr14:24840000-24846600	Strong transcription	Stomach Smooth Muscle	stomach
21	chr14:24840400-24844800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:24840400-24846600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:24840800-24847200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:24841000-24847600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr14:24841600-24847400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:24841800-24846000	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr14:24841800-24848400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:24842000-24844600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:24842000-24845800	Weak transcription	Left Ventricle	heart
30	chr14:24842000-24846600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:24842000-24847800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:24842200-24844600	Strong transcription	Fetal Intestine Small	intestine
33	chr14:24842200-24844800	Strong transcription	NH-A	brain
34	chr14:24842200-24848200	Strong transcription	NHLF	lung
35	chr14:24842400-24844800	Weak transcription	HUVEC	blood vessel
36	chr14:24842400-24846600	Strong transcription	Fetal Lung	lung
37	chr14:24842600-24847000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:24842600-24847200	Strong transcription	Ovary	ovary
39	chr14:24842600-24847600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:24842600-24848200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:24842600-24848400	Strong transcription	Osteobl	bone
42	chr14:24842600-24852400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:24842800-24844800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:24842800-24846400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:24843000-24845200	Strong transcription	Placenta	Placenta
46	chr14:24843000-24851200	Weak transcription	Adipose Nuclei	Adipose
47	chr14:24843200-24845000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr14:24843200-24845400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:24843400-24845000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:24843400-24845200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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