Variant report

Variant	rs4902844
Chromosome Location	chr14:71212386-71212387
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	chr14:71209875..71213128-chr14:71214251..71217560,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1034769	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10873241	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10873242	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12589737	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1476609	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2107666	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2332455	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2332458	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3814872	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4899368	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4899369	0.93[ASN][1000 genomes]
rs4902852	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6573980	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7140653	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7152516	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8007131	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8011507	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8018294	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71185800-71219200	Weak transcription	Stomach Mucosa	stomach
2	chr14:71186000-71221600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:71186000-71221600	Weak transcription	Hela-S3	cervix
4	chr14:71190000-71214400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:71191400-71220000	Weak transcription	Fetal Brain Male	brain
6	chr14:71191600-71220200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:71192400-71220200	Weak transcription	Fetal Kidney	kidney
8	chr14:71192600-71221800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:71194000-71222000	Weak transcription	HSMMtube	muscle
10	chr14:71194400-71213400	Weak transcription	Psoas Muscle	Psoas
11	chr14:71194400-71221600	Weak transcription	Left Ventricle	heart
12	chr14:71194600-71218600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:71194600-71221600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr14:71196200-71217000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr14:71197000-71228800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:71197600-71217000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:71198400-71223400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:71199000-71212400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:71199600-71219600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:71200200-71216400	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:71200400-71215400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:71200600-71224200	Weak transcription	Spleen	Spleen
23	chr14:71200800-71213000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:71201200-71215200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:71201200-71228000	Weak transcription	Colonic Mucosa	Colon
26	chr14:71201600-71219000	Weak transcription	Lung	lung
27	chr14:71201600-71220600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr14:71204800-71229400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:71205000-71219000	Weak transcription	Brain Angular Gyrus	brain
30	chr14:71205400-71220400	Weak transcription	Small Intestine	intestine
31	chr14:71206000-71218200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:71206800-71215000	Weak transcription	Aorta	Aorta
33	chr14:71206800-71221000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr14:71206800-71231600	Weak transcription	Brain Anterior Caudate	brain
35	chr14:71207000-71215200	Weak transcription	HepG2	liver
36	chr14:71207000-71215400	Weak transcription	GM12878-XiMat	blood
37	chr14:71207000-71221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:71207000-71221800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:71207200-71214000	Weak transcription	Primary T cells from cord blood	blood
40	chr14:71207600-71214600	Weak transcription	Dnd41	blood
41	chr14:71207800-71213000	Weak transcription	Primary B cells from cord blood	blood
42	chr14:71207800-71215200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:71208600-71215000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:71209000-71215400	Weak transcription	Liver	Liver
45	chr14:71209200-71215400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:71209200-71229400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr14:71209400-71212800	Weak transcription	A549	lung
48	chr14:71209400-71213000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:71209400-71213800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr14:71209400-71214400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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