Variant report

Variant	rs12878339
Chromosome Location	chr14:81643692-81643693
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:81641589..81644244-chr14:81683359..81688610,5	MCF-7	breast:
2	chr14:81643515..81648900-chr14:81684307..81689030,7	K562	blood:
3	chr14:81643246..81655314-chr14:81683241..81689401,24	K562	blood:
4	chr14:81642022..81644044-chr14:81645949..81648164,2	MCF-7	breast:
5	chr14:81635572..81638228-chr14:81643135..81644647,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STON2-5	chr14:81641799-81645528	NONHSAT038052

No data

Variant related genes	Relation type
ENSG00000258999	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10131728	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878477	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879576	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880377	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880414	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880551	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12883359	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883532	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889291	1.00[CHB][hapmap]
rs12891828	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892815	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12893436	1.00[ASN][1000 genomes]
rs12894001	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894318	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894596	1.00[CHB][hapmap]
rs12895215	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12895990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17630746	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35446669	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4592586	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81637000-81646400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:81637000-81647000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:81637000-81652200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:81637000-81659000	Weak transcription	Esophagus	oesophagus
5	chr14:81637000-81683800	Weak transcription	Small Intestine	intestine
6	chr14:81637200-81643800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:81637200-81644800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:81637200-81645000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:81637200-81645600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:81637200-81646200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:81637200-81646800	Weak transcription	Fetal Intestine Small	intestine
12	chr14:81637200-81648400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:81637200-81650000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:81637200-81650200	Weak transcription	Fetal Lung	lung
15	chr14:81637200-81651400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:81637200-81651800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:81637200-81652400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:81637200-81652600	Weak transcription	NHEK	skin
19	chr14:81637200-81652800	Weak transcription	Fetal Stomach	stomach
20	chr14:81637200-81653000	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:81637200-81658200	Weak transcription	HSMMtube	muscle
22	chr14:81637200-81658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr14:81637200-81658800	Weak transcription	Colonic Mucosa	Colon
24	chr14:81637200-81658800	Weak transcription	Left Ventricle	heart
25	chr14:81637400-81644200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:81637400-81644600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:81637400-81645600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:81637400-81646000	Weak transcription	K562	blood
29	chr14:81637400-81646200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr14:81637400-81646200	Weak transcription	Fetal Thymus	thymus
31	chr14:81637400-81646400	Weak transcription	Fetal Intestine Large	intestine
32	chr14:81637400-81646400	Weak transcription	Thymus	Thymus
33	chr14:81637400-81646600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:81637400-81646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:81637400-81648200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:81637400-81649800	Weak transcription	HepG2	liver
37	chr14:81637400-81650000	Weak transcription	Adipose Nuclei	Adipose
38	chr14:81637400-81650000	Weak transcription	Fetal Kidney	kidney
39	chr14:81637400-81651600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:81637400-81651800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:81637400-81652200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:81637400-81653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:81637400-81653000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:81637400-81656800	Weak transcription	HMEC	breast
45	chr14:81637400-81658800	Weak transcription	Fetal Brain Male	brain
46	chr14:81637400-81659000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:81637600-81643800	Weak transcription	Brain Anterior Caudate	brain
48	chr14:81637600-81643800	Weak transcription	Stomach Mucosa	stomach
49	chr14:81637600-81646600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:81637600-81646800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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