Variant report

Variant	rs57346352
Chromosome Location	chr14:70192616-70192617
allele	C/T
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	ZNF384	chr14:70192249-70192622	K562	blood:	n/a	n/a

Variant related genes	Relation type
SRSF5	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11622083	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622092	0.92[ASN][1000 genomes]
rs11624654	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11624754	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12589061	0.91[ASN][1000 genomes]
rs1275747	0.82[EUR][1000 genomes]
rs2332163	0.90[ASN][1000 genomes]
rs2332165	0.87[ASN][1000 genomes]
rs55654254	0.87[ASN][1000 genomes]
rs56325932	0.89[ASN][1000 genomes]
rs57016627	0.92[ASN][1000 genomes]
rs61982064	0.94[ASN][1000 genomes]
rs61982065	0.92[ASN][1000 genomes]
rs61982066	0.92[ASN][1000 genomes]

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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70180400-70193400	Weak transcription	Pancreas	Pancrea
2	chr14:70181400-70193600	Weak transcription	Primary T cells from cord blood	blood
3	chr14:70181600-70193400	Weak transcription	Thymus	Thymus
4	chr14:70182000-70193200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr14:70183000-70193400	Weak transcription	Fetal Intestine Small	intestine
6	chr14:70183800-70193400	Weak transcription	Colonic Mucosa	Colon
7	chr14:70183800-70193400	Weak transcription	Small Intestine	intestine
8	chr14:70184000-70192800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:70184000-70193000	Weak transcription	Brain Substantia Nigra	brain
10	chr14:70186600-70193400	Weak transcription	Ovary	ovary
11	chr14:70186800-70192800	Weak transcription	Left Ventricle	heart
12	chr14:70186800-70193000	Weak transcription	GM12878-XiMat	blood
13	chr14:70186800-70193400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:70186800-70193400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:70186800-70193400	Weak transcription	Psoas Muscle	Psoas
16	chr14:70186800-70193400	Weak transcription	HSMM	muscle
17	chr14:70187000-70193400	Weak transcription	HSMMtube	muscle
18	chr14:70187200-70193400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:70187200-70193400	Weak transcription	HUVEC	blood vessel
20	chr14:70187400-70193400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:70187600-70193400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:70187600-70193400	Weak transcription	HMEC	breast
23	chr14:70188000-70193200	Weak transcription	Lung	lung
24	chr14:70188000-70193400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:70188000-70193400	Weak transcription	Right Atrium	heart
26	chr14:70188000-70193400	Weak transcription	Right Ventricle	heart
27	chr14:70188400-70193200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:70190000-70193400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:70191600-70193600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr14:70191800-70193200	Enhancers	Brain Anterior Caudate	brain
31	chr14:70192000-70193400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:70192000-70193400	Enhancers	Brain Hippocampus Middle	brain
33	chr14:70192400-70193200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr14:70192400-70193400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:70192400-70193400	Enhancers	Adipose Nuclei	Adipose
36	chr14:70192400-70193400	Enhancers	HepG2	liver
37	chr14:70192400-70193600	Enhancers	Spleen	Spleen
38	chr14:70192400-70195400	Enhancers	Fetal Muscle Leg	muscle
39	chr14:70192600-70192800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr14:70192600-70193200	Weak transcription	K562	blood
41	chr14:70192600-70193400	Enhancers	Duodenum Mucosa	Duodenum
42	chr14:70192600-70193600	Enhancers	Placenta	Placenta

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