Variant report

Variant	rs73604911
Chromosome Location	chr14:24619630-24619631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24618632-24621353	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:24618871-24619875	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:24619569-24619822	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:24617636..24620012-chr14:24740760..24742567,2	MCF-7	breast:
2	chr14:24618673..24621227-chr14:24682825..24685142,2	K562	blood:
3	chr14:24519595..24523490-chr14:24615649..24620329,4	MCF-7	breast:
4	chr14:24563170..24565113-chr14:24618520..24620450,2	K562	blood:
5	chr14:24581756..24587936-chr14:24614253..24620861,10	K562	blood:

No data

Variant related genes	Relation type
PSME2	TF binding region
RNF31	TF binding region
ENSG00000259529	TF binding region
ENSG00000213920	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000100949	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs67903529	0.89[AFR][1000 genomes]
rs72658753	0.83[AFR][1000 genomes]
rs72658754	0.89[AFR][1000 genomes]
rs73604910	0.96[AFR][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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24617400-24621400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:24617600-24630400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:24617800-24626800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:24617800-24629800	Weak transcription	Right Atrium	heart
5	chr14:24618000-24620400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
6	chr14:24618000-24620800	Genic enhancers	Stomach Smooth Muscle	stomach
7	chr14:24618000-24621400	Strong transcription	NHLF	lung
8	chr14:24618000-24621800	Strong transcription	HSMM	muscle
9	chr14:24618000-24622200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:24618000-24622200	Strong transcription	Primary B cells from cord blood	blood
11	chr14:24618000-24622200	Strong transcription	A549	lung
12	chr14:24618000-24622400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:24618000-24622800	Strong transcription	Rectal Smooth Muscle	rectum
14	chr14:24618000-24626000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr14:24618000-24627400	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr14:24618000-24629000	Strong transcription	Placenta	Placenta
17	chr14:24618000-24629400	Strong transcription	Fetal Intestine Small	intestine
18	chr14:24618000-24630000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:24618000-24630200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:24618000-24630400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:24618200-24619800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr14:24618200-24620000	Genic enhancers	Dnd41	blood
23	chr14:24618200-24620400	Strong transcription	K562	blood
24	chr14:24618200-24620600	Weak transcription	Psoas Muscle	Psoas
25	chr14:24618200-24621200	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr14:24618200-24621600	Strong transcription	Brain Substantia Nigra	brain
27	chr14:24618200-24622000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:24618200-24622200	Strong transcription	Osteobl	bone
29	chr14:24618200-24622600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:24618200-24622600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:24618200-24622600	Strong transcription	Brain Hippocampus Middle	brain
32	chr14:24618200-24622600	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr14:24618200-24622800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:24618200-24622800	Strong transcription	Fetal Lung	lung
35	chr14:24618200-24629000	Strong transcription	Fetal Thymus	thymus
36	chr14:24618200-24629400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr14:24618200-24629400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:24618200-24629400	Strong transcription	Fetal Intestine Large	intestine
39	chr14:24618200-24629600	Weak transcription	Fetal Heart	heart
40	chr14:24618200-24630000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:24618200-24630000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:24618400-24620000	Weak transcription	Fetal Brain Male	brain
43	chr14:24618400-24620600	Strong transcription	Primary hematopoietic stem cells	blood
44	chr14:24618400-24621000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:24618400-24622000	Strong transcription	Colon Smooth Muscle	Colon
46	chr14:24618400-24622200	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr14:24618400-24622200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:24618400-24622800	Strong transcription	NH-A	brain
49	chr14:24618400-24627800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:24618400-24629600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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