Variant report

Variant	rs73604946
Chromosome Location	chr14:24668195-24668196
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24667545-24668431	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:24667933-24668251	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:24668169-24668400	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:24668141-24668284	MCF-7	breast:	n/a	n/a
5	HNF4A	chr14:24668076-24668369	HepG2	liver:	n/a	chr14:24668221-24668236 chr14:24668221-24668236
6	POLR2A	chr14:24667655-24668770	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:24667804-24668646	K562	blood:	n/a	n/a
8	MAFK	chr14:24668106-24668314	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:24668059-24668253	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:24667736-24668713	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:24667847-24668590	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:24662549..24668200-chr14:24676089..24685150,15	K562	blood:

Variant related genes	Relation type
TM9SF1	TF binding region
ENSG00000254505	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000139908	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17102232	0.87[AFR][1000 genomes]
rs73591411	0.86[AFR][1000 genomes]
rs73604904	1.00[AFR][1000 genomes]
rs73604930	1.00[AFR][1000 genomes]
rs73604934	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24665600-24670400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:24665600-24674800	Weak transcription	Esophagus	oesophagus
3	chr14:24665800-24670600	Weak transcription	Spleen	Spleen
4	chr14:24665800-24670800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:24665800-24675000	Weak transcription	Aorta	Aorta
6	chr14:24665800-24681800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:24666000-24668600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr14:24666000-24670000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:24666000-24670400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:24666000-24670600	Weak transcription	Fetal Kidney	kidney
11	chr14:24666000-24670800	Weak transcription	Brain Substantia Nigra	brain
12	chr14:24666000-24670800	Weak transcription	HMEC	breast
13	chr14:24666000-24672200	Weak transcription	NHLF	lung
14	chr14:24666000-24674200	Weak transcription	Gastric	stomach
15	chr14:24666000-24674800	Weak transcription	Ovary	ovary
16	chr14:24666000-24675000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:24666000-24675800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:24666200-24668400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:24666200-24668800	Enhancers	Fetal Intestine Large	intestine
20	chr14:24666200-24668800	Genic enhancers	Placenta	Placenta
21	chr14:24666200-24670400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:24666200-24670600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:24666200-24670600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:24666200-24670600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:24666200-24670600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:24666200-24670600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:24666200-24673200	Weak transcription	Psoas Muscle	Psoas
28	chr14:24666600-24668200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:24666600-24668200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:24666600-24668200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr14:24666600-24669000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr14:24666600-24669800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:24666600-24670400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:24666600-24670400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:24666600-24670400	Weak transcription	Lung	lung
36	chr14:24666600-24670600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:24666600-24670600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:24666600-24670600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:24666600-24670600	Weak transcription	Brain Angular Gyrus	brain
40	chr14:24666600-24670600	Weak transcription	Fetal Brain Female	brain
41	chr14:24666600-24670600	Weak transcription	Fetal Lung	lung
42	chr14:24666600-24670800	Weak transcription	Primary T cells from cord blood	blood
43	chr14:24666600-24670800	Weak transcription	Thymus	Thymus
44	chr14:24666600-24672200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:24666600-24672200	Weak transcription	HSMM	muscle
46	chr14:24666600-24672200	Weak transcription	HSMMtube	muscle
47	chr14:24666600-24674200	Weak transcription	NHDF-Ad	bronchial
48	chr14:24666600-24675000	Weak transcription	Brain Germinal Matrix	brain
49	chr14:24666600-24675000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr14:24666600-24675000	Weak transcription	Right Ventricle	heart

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