Variant report

Variant	rs72642558
Chromosome Location	chr14:31767088-31767089
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	JUND	chr14:31767019-31767923	SK-N-SH	brain:	n/a	chr14:31767305-31767316
2	FOS	chr14:31766987-31767505	HUVEC	blood vessel:	n/a	chr14:31767305-31767316

Variant related genes	Relation type
HEATR5A	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10134212	0.87[ASN][1000 genomes]
rs10143519	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10148707	0.82[EUR][1000 genomes]
rs10149123	0.87[ASN][1000 genomes]
rs12323409	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17097806	0.93[EUR][1000 genomes]
rs2031437	0.93[EUR][1000 genomes]
rs28396248	0.91[ASN][1000 genomes]
rs28505754	0.89[ASN][1000 genomes]
rs28738723	0.89[ASN][1000 genomes]
rs28791187	0.89[ASN][1000 genomes]
rs28799339	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72642557	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72642559	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8005648	1.00[EUR][1000 genomes]
rs9972227	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31749400-31789000	Weak transcription	Psoas Muscle	Psoas
2	chr14:31753200-31768000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:31753200-31769400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:31753200-31776600	Weak transcription	Aorta	Aorta
5	chr14:31753400-31767800	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:31753400-31769400	Weak transcription	Brain Anterior Caudate	brain
7	chr14:31753400-31769400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:31753400-31774000	Weak transcription	NHDF-Ad	bronchial
9	chr14:31753600-31772600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:31755200-31769400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:31756200-31767800	Weak transcription	Left Ventricle	heart
12	chr14:31756200-31769800	Weak transcription	Liver	Liver
13	chr14:31756400-31769600	Weak transcription	Lung	lung
14	chr14:31756600-31769200	Weak transcription	Spleen	Spleen
15	chr14:31757200-31769200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:31757200-31769400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:31757800-31769400	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:31758000-31775600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:31759200-31769200	Weak transcription	Primary T cells from cord blood	blood
20	chr14:31759600-31769400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:31759800-31769400	Weak transcription	Fetal Brain Male	brain
22	chr14:31760200-31769200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:31760600-31767800	Weak transcription	Brain Angular Gyrus	brain
24	chr14:31760600-31779400	Weak transcription	Pancreas	Pancrea
25	chr14:31760800-31768000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:31760800-31769200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:31760800-31769200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:31760800-31771400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:31760800-31772800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr14:31760800-31773200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:31760800-31774000	Weak transcription	Primary B cells from cord blood	blood
32	chr14:31760800-31776400	Weak transcription	Stomach Mucosa	stomach
33	chr14:31760800-31781000	Weak transcription	Fetal Kidney	kidney
34	chr14:31761000-31769200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:31761000-31769200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:31761000-31770600	Weak transcription	A549	lung
37	chr14:31761200-31771200	Weak transcription	Fetal Intestine Large	intestine
38	chr14:31761400-31769600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr14:31761400-31769600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:31761400-31771200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr14:31761600-31769400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:31761600-31770600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:31761600-31794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr14:31761600-31794400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr14:31762200-31780600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:31762200-31785200	Weak transcription	HMEC	breast
47	chr14:31762400-31769200	Weak transcription	Colon Smooth Muscle	Colon
48	chr14:31762400-31794800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr14:31762600-31779800	Weak transcription	Esophagus	oesophagus
50	chr14:31762800-31769400	Weak transcription	Fetal Lung	lung

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