Variant report

Variant	rs61995529
Chromosome Location	chr14:31767938-31767939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10147938	0.83[EUR][1000 genomes]
rs12892246	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12895352	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17577629	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17660791	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660955	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2181420	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34159200	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34737578	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34777795	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35330064	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35335466	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35474202	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35628255	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35952505	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736917	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4981832	0.91[ASN][1000 genomes]
rs4981841	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61995554	0.86[EUR][1000 genomes]
rs61996784	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs727671	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs927704	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[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:105 , 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	chr14:31753400-31769400	Weak transcription	Brain Anterior Caudate	brain
6	chr14:31753400-31769400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:31753400-31774000	Weak transcription	NHDF-Ad	bronchial
8	chr14:31753600-31772600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:31755200-31769400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:31756200-31769800	Weak transcription	Liver	Liver
11	chr14:31756400-31769600	Weak transcription	Lung	lung
12	chr14:31756600-31769200	Weak transcription	Spleen	Spleen
13	chr14:31757200-31769200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:31757200-31769400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:31757800-31769400	Weak transcription	Fetal Muscle Leg	muscle
16	chr14:31758000-31775600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:31759200-31769200	Weak transcription	Primary T cells from cord blood	blood
18	chr14:31759600-31769400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:31759800-31769400	Weak transcription	Fetal Brain Male	brain
20	chr14:31760200-31769200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:31760600-31779400	Weak transcription	Pancreas	Pancrea
22	chr14:31760800-31768000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:31760800-31769200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:31760800-31769200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:31760800-31771400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:31760800-31772800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr14:31760800-31773200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:31760800-31774000	Weak transcription	Primary B cells from cord blood	blood
29	chr14:31760800-31776400	Weak transcription	Stomach Mucosa	stomach
30	chr14:31760800-31781000	Weak transcription	Fetal Kidney	kidney
31	chr14:31761000-31769200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:31761000-31769200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:31761000-31770600	Weak transcription	A549	lung
34	chr14:31761200-31771200	Weak transcription	Fetal Intestine Large	intestine
35	chr14:31761400-31769600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr14:31761400-31769600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:31761400-31771200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr14:31761600-31769400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:31761600-31770600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:31761600-31794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr14:31761600-31794400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr14:31762200-31780600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:31762200-31785200	Weak transcription	HMEC	breast
44	chr14:31762400-31769200	Weak transcription	Colon Smooth Muscle	Colon
45	chr14:31762400-31794800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr14:31762600-31779800	Weak transcription	Esophagus	oesophagus
47	chr14:31762800-31769400	Weak transcription	Fetal Lung	lung
48	chr14:31762800-31771000	Weak transcription	Right Ventricle	heart
49	chr14:31762800-31783000	Weak transcription	Fetal Thymus	thymus
50	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart

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