Variant report

Variant	rs11849518
Chromosome Location	chr14:67573141-67573142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67572400..67574013-chr14:67576245..67579223,2	K562	blood:

Variant related genes	Relation type
ENSG00000171723	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10713830	0.81[AFR][1000 genomes]
rs11848862	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61990914	0.86[ASN][1000 genomes]
rs74056472	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2829998	chr14:67103579-67626594	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2763071	chr14:67284476-67597237	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv1841498	chr14:67434470-67634318	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11849518	SRSF5	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67534800-67576400	Weak transcription	Pancreas	Pancrea
2	chr14:67548400-67590200	Weak transcription	Esophagus	oesophagus
3	chr14:67551000-67589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:67554600-67604200	Weak transcription	HMEC	breast
5	chr14:67555400-67589600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:67555400-67589600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr14:67558600-67589600	Weak transcription	Right Ventricle	heart
8	chr14:67562200-67578800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:67562600-67593800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:67563600-67589600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:67567000-67593200	Weak transcription	Lung	lung
12	chr14:67568000-67618400	Weak transcription	Gastric	stomach
13	chr14:67568800-67574200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:67569400-67590000	Weak transcription	Fetal Stomach	stomach
15	chr14:67569800-67589400	Weak transcription	Fetal Kidney	kidney
16	chr14:67570000-67573600	Weak transcription	Fetal Intestine Small	intestine
17	chr14:67570000-67579000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:67570000-67579200	Weak transcription	Left Ventricle	heart
19	chr14:67570000-67588800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:67570000-67589000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:67570000-67589800	Weak transcription	Aorta	Aorta
22	chr14:67570600-67573200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr14:67571000-67589600	Weak transcription	Ovary	ovary
24	chr14:67571000-67589600	Weak transcription	Psoas Muscle	Psoas
25	chr14:67571600-67589400	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:67573000-67576600	Weak transcription	Liver	Liver
27	chr14:67573000-67588400	Weak transcription	Brain Substantia Nigra	brain
28	chr14:67573000-67588800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:67573000-67615200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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