Variant report

Variant	rs1980850
Chromosome Location	chr14:68647188-68647189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68602556..68605498-chr14:68644856..68647677,2	MCF-7	breast:
2	chr14:68606522..68609146-chr14:68646292..68648730,3	MCF-7	breast:
3	chr14:68635724..68652229-chr14:68652309..68662207,28	MCF-7	breast:
4	chr14:68645595..68647728-chr14:69282416..69284911,2	MCF-7	breast:
5	chr14:68631061..68632736-chr14:68646338..68648458,2	MCF-7	breast:
6	chr14:68644898..68647865-chr14:68656989..68659986,2	K562	blood:
7	chr14:68646641..68650349-chr14:69255311..69259925,5	MCF-7	breast:
8	chr14:68637477..68641965-chr14:68646902..68653784,8	MCF-7	breast:
9	chr14:68604553..68606506-chr14:68645240..68647824,2	MCF-7	breast:
10	chr14:68641980..68649731-chr14:69257226..69262968,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1022978	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1028842	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1080321	0.86[ASN][1000 genomes]
rs12432006	0.85[ASN][1000 genomes]
rs1274637	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274638	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274639	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274640	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274641	1.00[ASN][1000 genomes]
rs1274642	1.00[ASN][1000 genomes]
rs1274643	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274644	1.00[ASN][1000 genomes]
rs1274645	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274646	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274647	1.00[ASN][1000 genomes]
rs1274648	1.00[ASN][1000 genomes]
rs1274649	1.00[ASN][1000 genomes]
rs1274650	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274651	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274652	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274653	1.00[ASN][1000 genomes]
rs1274654	1.00[ASN][1000 genomes]
rs1274655	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274656	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274657	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274658	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274659	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1274661	1.00[ASN][1000 genomes]
rs12894297	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1290939	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1295780	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1295781	1.00[ASN][1000 genomes]
rs1295782	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1296527	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1298340	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1299581	1.00[ASN][1000 genomes]
rs1314912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1314913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1314914	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1314915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1314918	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1314919	0.86[ASN][1000 genomes]
rs1315984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1316014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1316118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1316170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1467673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1536455	1.00[ASN][1000 genomes]
rs1555944	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1555945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104908	0.84[CEU][hapmap]
rs17105269	1.00[JPT][hapmap]
rs1744947	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1744949	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1744959	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1751381	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1751382	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1951410	0.87[AMR][1000 genomes]
rs1951631	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1952245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952246	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs1958111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958112	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1958113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958115	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs1958116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038979	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254173	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255767	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2478777	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2588806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588808	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588809	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2588813	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2588814	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588819	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588820	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2588823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588824	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588826	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588827	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs2588828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588829	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588830	0.84[EUR][1000 genomes]
rs2588831	0.84[EUR][1000 genomes]
rs2588833	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs2588834	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2767365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2767366	0.82[EUR][1000 genomes]
rs2767367	0.82[EUR][1000 genomes]
rs2767368	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2767377	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2767378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2767379	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767382	0.92[EUR][1000 genomes]
rs2767383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34409637	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs372143	0.84[CEU][hapmap]
rs373918	0.84[CEU][hapmap]
rs401021	0.84[CEU][hapmap]
rs411547	0.84[CEU][hapmap]
rs419450	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs424032	0.80[EUR][1000 genomes]
rs431649	0.84[CEU][hapmap]
rs435620	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs437585	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs440627	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs445921	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs448445	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6573817	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7141160	0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs7141450	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes]
rs7155764	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs725453	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8011527	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8014524	0.86[AMR][1000 genomes]
rs959039	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1048794	chr14:68614152-68649231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68635400-68648200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:68636200-68648000	Weak transcription	HSMM	muscle
3	chr14:68640400-68647600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:68640400-68648000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:68640600-68648200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:68641000-68648200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:68641000-68648200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:68641200-68647600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:68641400-68647400	Weak transcription	HepG2	liver
10	chr14:68641400-68648400	Weak transcription	Liver	Liver
11	chr14:68641400-68658000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr14:68642200-68647400	Weak transcription	Fetal Intestine Large	intestine
13	chr14:68642400-68659800	Weak transcription	Pancreas	Pancrea
14	chr14:68644800-68648000	Weak transcription	Small Intestine	intestine
15	chr14:68644800-68648400	Weak transcription	Esophagus	oesophagus
16	chr14:68644800-68648400	Weak transcription	Ovary	ovary
17	chr14:68645000-68651000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:68645000-68655600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:68645400-68647800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:68645400-68647800	Weak transcription	NHDF-Ad	bronchial
21	chr14:68645400-68648000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:68645600-68647400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:68645600-68647600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:68645600-68647800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:68645600-68648000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:68645600-68648000	Weak transcription	Fetal Muscle Leg	muscle
27	chr14:68645600-68648000	Weak transcription	Fetal Thymus	thymus
28	chr14:68645600-68648000	Weak transcription	NH-A	brain
29	chr14:68645600-68648200	Weak transcription	NHEK	skin
30	chr14:68645600-68648400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:68645600-68648600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:68645800-68648000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:68645800-68648000	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:68645800-68648400	Weak transcription	Fetal Lung	lung
35	chr14:68646000-68647400	Weak transcription	Stomach Mucosa	stomach
36	chr14:68646000-68647600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:68646000-68647800	Weak transcription	A549	lung
38	chr14:68646000-68647800	Weak transcription	Osteobl	bone
39	chr14:68646000-68648000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:68646000-68648000	Weak transcription	Fetal Intestine Small	intestine
41	chr14:68646000-68648200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:68646000-68648600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:68646000-68650800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:68646200-68647600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr14:68646200-68647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:68646200-68648400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:68646400-68647400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:68646600-68647200	Enhancers	HSMMtube	muscle
49	chr14:68646600-68648200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:68646600-68648200	Weak transcription	Duodenum Mucosa	Duodenum

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