Variant report

Variant	rs72681281
Chromosome Location	chr14:77834808-77834809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77828784..77831328-chr14:77834341..77836225,2	K562	blood:
2	chr14:77832875..77836043-chr14:77836828..77840686,4	MCF-7	breast:
3	chr14:77813905..77816792-chr14:77833913..77836690,2	K562	blood:
4	chr14:77832757..77835144-chr14:77836062..77838189,2	K562	blood:
5	chr14:77785511..77787624-chr14:77834767..77836832,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000009830	Chromatin interaction
ENSG00000100577	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10450933	0.91[ASN][1000 genomes]
rs17105674	0.82[EUR][1000 genomes]
rs17105759	0.91[ASN][1000 genomes]
rs17751122	0.91[ASN][1000 genomes]
rs2287397	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2293802	0.91[ASN][1000 genomes]
rs2302831	0.82[EUR][1000 genomes]
rs3742739	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55886156	0.82[EUR][1000 genomes]
rs55891221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56018212	0.82[EUR][1000 genomes]
rs56091500	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56403921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681225	0.82[EUR][1000 genomes]
rs72681227	0.82[EUR][1000 genomes]
rs72681229	0.82[EUR][1000 genomes]
rs72681235	0.82[EUR][1000 genomes]
rs72681243	0.89[EUR][1000 genomes]
rs72681261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681263	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72681264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681265	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681283	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681284	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73311381	1.00[ASN][1000 genomes]
rs8177546	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177560	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177565	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177567	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177568	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177571	0.89[EUR][1000 genomes];0.82[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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77803800-77835400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:77806400-77838600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:77809600-77842000	Weak transcription	HUVEC	blood vessel
4	chr14:77810000-77838800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:77811200-77835000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:77812800-77842000	Weak transcription	Pancreas	Pancrea
7	chr14:77813000-77835600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:77813800-77842400	Weak transcription	Aorta	Aorta
9	chr14:77816800-77835600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:77817000-77842000	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:77817200-77840000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:77817200-77841600	Weak transcription	Brain Germinal Matrix	brain
13	chr14:77817200-77842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr14:77817400-77835200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr14:77817400-77835400	Weak transcription	Primary T cells from cord blood	blood
16	chr14:77817400-77841200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:77817600-77835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:77817800-77837600	Weak transcription	Fetal Intestine Small	intestine
19	chr14:77818000-77842000	Weak transcription	Fetal Stomach	stomach
20	chr14:77818200-77835400	Weak transcription	Dnd41	blood
21	chr14:77822400-77841600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:77824200-77835800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:77826200-77837800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:77827200-77837600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr14:77827800-77835600	Weak transcription	Primary B cells from cord blood	blood
26	chr14:77828800-77835200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:77829600-77838600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:77829600-77842000	Weak transcription	Spleen	Spleen
29	chr14:77829800-77842400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:77830400-77838400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:77831000-77835600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:77831000-77841400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr14:77831200-77835400	Weak transcription	HepG2	liver
34	chr14:77832000-77842000	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:77832600-77835400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr14:77832600-77841400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr14:77832800-77835800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:77833200-77835400	Weak transcription	GM12878-XiMat	blood

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