Variant report

Variant	rs9671927
Chromosome Location	chr14:39613783-39613784
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39612099..39614380-chr14:39637583..39639681,2	K562	blood:
2	chr14:39613201..39614805-chr14:39632982..39635752,2	K562	blood:

Variant related genes	Relation type
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10132034	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10132953	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10149829	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11157046	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157047	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157048	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434607	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12895329	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs175341	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950509	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1955917	0.87[EUR][1000 genomes]
rs1956629	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964842	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2038357	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2082637	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2099410	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2180214	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2180217	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2180792	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252040	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3899404	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4290398	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616209	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899139	0.87[EUR][1000 genomes]
rs4899140	0.87[EUR][1000 genomes]
rs4902294	0.87[EUR][1000 genomes]
rs4902402	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902419	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902436	0.83[AMR][1000 genomes]
rs56163817	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6571888	0.87[EUR][1000 genomes]
rs6571889	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6571890	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6571891	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6571894	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6571895	0.84[AMR][1000 genomes]
rs6571896	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571897	0.85[ASN][1000 genomes]
rs6571904	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6571905	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7147760	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154585	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs761804	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761806	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761807	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003194	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8003485	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003807	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007063	0.86[AMR][1000 genomes]
rs8010111	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011855	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012178	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs8014255	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014677	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021225	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8022141	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322993	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970623	0.82[EUR][1000 genomes]
rs975591	0.87[EUR][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39583800-39626000	Weak transcription	Spleen	Spleen
2	chr14:39584000-39615000	Weak transcription	Pancreas	Pancrea
3	chr14:39584000-39623600	Weak transcription	Esophagus	oesophagus
4	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
5	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:39584400-39617200	Weak transcription	Psoas Muscle	Psoas
7	chr14:39584400-39620800	Weak transcription	Colonic Mucosa	Colon
8	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
9	chr14:39584600-39625800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
11	chr14:39589200-39618000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:39589200-39626400	Weak transcription	Fetal Heart	heart
13	chr14:39592600-39622200	Weak transcription	Right Ventricle	heart
14	chr14:39592800-39618000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr14:39592800-39626600	Weak transcription	NHLF	lung
16	chr14:39594000-39620800	Weak transcription	Hela-S3	cervix
17	chr14:39596200-39621200	Weak transcription	Brain Substantia Nigra	brain
18	chr14:39598600-39618000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:39598800-39636200	Weak transcription	Stomach Mucosa	stomach
20	chr14:39603600-39617200	Weak transcription	Left Ventricle	heart
21	chr14:39604200-39617000	Weak transcription	NHDF-Ad	bronchial
22	chr14:39604400-39635400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:39604800-39622400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:39605200-39621200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:39605800-39625200	Weak transcription	HSMMtube	muscle
26	chr14:39606800-39621200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:39607000-39616800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:39607000-39617200	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:39607000-39617800	Weak transcription	HSMM	muscle
30	chr14:39607000-39621200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:39607000-39625400	Weak transcription	Fetal Kidney	kidney
32	chr14:39607200-39614400	Weak transcription	K562	blood
33	chr14:39607200-39616800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:39607200-39619400	Weak transcription	HMEC	breast
35	chr14:39607200-39623800	Weak transcription	Ovary	ovary
36	chr14:39607400-39615800	Weak transcription	Primary T cells from cord blood	blood
37	chr14:39607400-39616200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:39607400-39617000	Weak transcription	Primary B cells from cord blood	blood
39	chr14:39607400-39617200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr14:39607600-39617200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:39607800-39617000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:39608000-39615800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr14:39608000-39617200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:39608200-39616400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr14:39608200-39616800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr14:39608200-39617000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:39608200-39617000	Weak transcription	HUVEC	blood vessel
48	chr14:39608200-39617200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:39608200-39618000	Weak transcription	Brain Hippocampus Middle	brain
50	chr14:39608200-39620000	Weak transcription	Brain Angular Gyrus	brain

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