Variant report

Variant	rs1080321
Chromosome Location	chr14:68712521-68712522
allele	A/C
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68710270..68718985-chr14:68771545..68777065,19	MCF-7	breast:
2	chr14:68711454..68713449-chr14:68924641..68927109,2	MCF-7	breast:
3	chr14:68655074..68665772-chr14:68705598..68717948,30	MCF-7	breast:
4	chr14:68656043..68661099-chr14:68710391..68716081,7	MCF-7	breast:
5	chr14:68406488..68409167-chr14:68711132..68714083,3	MCF-7	breast:
6	chr14:68710991..68712652-chr14:68725529..68728244,2	MCF-7	breast:
7	chr14:68701385..68703692-chr14:68711450..68713051,3	MCF-7	breast:
8	chr14:68711627..68715466-chr14:69257359..69259390,3	K562	blood:
9	chr14:68407127..68413734-chr14:68709753..68718255,16	MCF-7	breast:
10	chr14:68661354..68663465-chr14:68710043..68713099,3	MCF-7	breast:
11	chr14:68604504..68610375-chr14:68709920..68717829,10	MCF-7	breast:
12	chr14:68708487..68726231-chr14:69250578..69263645,103	MCF-7	breast:
13	chr14:68710399..68712782-chr14:68867549..68870456,2	MCF-7	breast:
14	chr14:68430287..68432974-chr14:68711186..68712879,2	MCF-7	breast:
15	chr14:68711091..68724838-chr14:69248065..69264571,70	MCF-7	breast:
16	chr14:68431037..68432737-chr14:68710733..68713003,2	MCF-7	breast:
17	chr14:68631809..68634739-chr14:68711873..68715827,4	MCF-7	breast:
18	chr14:68712152..68714666-chr14:68861670..68863441,2	MCF-7	breast:
19	chr14:68561716..68564326-chr14:68711214..68713015,2	MCF-7	breast:
20	chr14:68711443..68714293-chr14:68715594..68717440,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243546	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1022978	0.86[ASN][1000 genomes]
rs1028842	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11628885	0.87[EUR][1000 genomes]
rs1274637	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274638	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274639	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274640	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274641	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274642	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274643	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274644	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274645	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274646	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274647	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274648	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274649	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274650	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274651	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274652	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274653	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274654	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274655	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274656	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274657	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274658	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274659	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1274661	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12894297	0.86[ASN][1000 genomes]
rs1290939	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1295780	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1295781	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1295782	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1296527	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1298340	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1299581	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1314911	0.85[EUR][1000 genomes]
rs1314912	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1314913	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1314914	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1314915	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1314916	0.88[EUR][1000 genomes]
rs1314918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1314919	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1314921	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1315984	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316014	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316118	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316170	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467673	0.86[ASN][1000 genomes]
rs1536455	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1555945	0.86[ASN][1000 genomes]
rs17105269	0.86[EUR][1000 genomes]
rs1744947	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1744949	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1744959	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1751381	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1751382	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1951631	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1952245	0.86[ASN][1000 genomes]
rs1958111	0.86[ASN][1000 genomes]
rs1958113	0.86[ASN][1000 genomes]
rs1958116	0.86[ASN][1000 genomes]
rs1980850	0.86[ASN][1000 genomes]
rs2038979	0.86[ASN][1000 genomes]
rs2243905	0.86[ASN][1000 genomes]
rs2254173	0.86[ASN][1000 genomes]
rs2255767	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2478777	0.80[ASN][1000 genomes]
rs2588806	0.86[ASN][1000 genomes]
rs2588807	0.86[ASN][1000 genomes]
rs2588808	0.86[ASN][1000 genomes]
rs2588809	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2588814	0.86[ASN][1000 genomes]
rs2588815	0.86[ASN][1000 genomes]
rs2588816	0.86[ASN][1000 genomes]
rs2588818	0.86[ASN][1000 genomes]
rs2588819	0.86[ASN][1000 genomes]
rs2588820	0.86[ASN][1000 genomes]
rs2588823	0.86[ASN][1000 genomes]
rs2588824	0.86[ASN][1000 genomes]
rs2588825	0.86[ASN][1000 genomes]
rs2588826	0.86[ASN][1000 genomes]
rs2588828	0.86[ASN][1000 genomes]
rs2588829	0.86[ASN][1000 genomes]
rs2767377	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2767378	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2767379	0.86[ASN][1000 genomes]
rs2767383	0.86[ASN][1000 genomes]
rs2767384	0.86[ASN][1000 genomes]
rs34409637	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7155764	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs725453	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs959039	0.86[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	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68690800-68712800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68697600-68714400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:68703000-68714000	Enhancers	Fetal Muscle Leg	muscle
4	chr14:68703000-68718800	Enhancers	Fetal Intestine Large	intestine
5	chr14:68703200-68718800	Enhancers	Fetal Intestine Small	intestine
6	chr14:68704400-68714400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:68707000-68713400	Weak transcription	GM12878-XiMat	blood
8	chr14:68707200-68724000	Enhancers	Fetal Lung	lung
9	chr14:68707400-68715800	Enhancers	Duodenum Mucosa	Duodenum
10	chr14:68707600-68720400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:68707800-68717800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr14:68707800-68718000	Enhancers	Stomach Mucosa	stomach
13	chr14:68708200-68715400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr14:68708400-68715400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr14:68709000-68715400	Weak transcription	Esophagus	oesophagus
16	chr14:68709600-68717800	Enhancers	Adipose Nuclei	Adipose
17	chr14:68710000-68718800	Enhancers	Rectal Smooth Muscle	rectum
18	chr14:68710200-68712800	Enhancers	Brain Cingulate Gyrus	brain
19	chr14:68710200-68713600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr14:68710200-68713600	Enhancers	Brain Germinal Matrix	brain
21	chr14:68710200-68713800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:68710200-68718600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr14:68710200-68718800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr14:68710200-68719000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:68710200-68719400	Enhancers	Fetal Heart	heart
26	chr14:68710400-68713000	Enhancers	Brain Substantia Nigra	brain
27	chr14:68710400-68713800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:68710400-68713800	Enhancers	Small Intestine	intestine
29	chr14:68710400-68715000	Enhancers	K562	blood
30	chr14:68710400-68718600	Enhancers	Brain Hippocampus Middle	brain
31	chr14:68710400-68718600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr14:68710400-68718800	Enhancers	Fetal Stomach	stomach
33	chr14:68710600-68713200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:68710800-68714000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr14:68710800-68717800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:68710800-68718600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:68710800-68719000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:68711000-68713800	Enhancers	Right Atrium	heart
39	chr14:68711000-68714000	Enhancers	Fetal Thymus	thymus
40	chr14:68711200-68712600	Enhancers	Colonic Mucosa	Colon
41	chr14:68711200-68713000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:68711200-68713800	Enhancers	Psoas Muscle	Psoas
43	chr14:68711200-68718600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:68711400-68712600	Weak transcription	Right Ventricle	heart
45	chr14:68711400-68712800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:68711400-68712800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:68711400-68713600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr14:68711400-68715200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr14:68711400-68715400	Enhancers	Primary hematopoietic stem cells	blood
50	chr14:68711400-68715600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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