Variant report

Variant	rs12895215
Chromosome Location	chr14:81725897-81725898
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81684792..81690788-chr14:81724993..81730571,6	K562	blood:
2	chr14:81684386..81687381-chr14:81725613..81728928,6	MCF-7	breast:
3	chr14:81685913..81687498-chr14:81724486..81727232,2	K562	blood:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10131728	1.00[CHB][hapmap]
rs12878339	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12878503	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[TSI][hapmap]
rs12880551	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884270	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888290	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889291	1.00[CHB][hapmap]
rs12891586	0.96[EUR][1000 genomes]
rs12891828	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[TSI][hapmap]
rs12892815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892839	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893275	1.00[ASN][1000 genomes]
rs12894596	1.00[CHB][hapmap]
rs12897788	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17630746	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[TSI][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12895215	NRXN3	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81714200-81726000	Weak transcription	HMEC	breast
2	chr14:81714200-81738600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:81714400-81734000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr14:81714600-81726000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:81714800-81726200	Weak transcription	Placenta	Placenta
6	chr14:81719800-81735600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr14:81721200-81735600	Weak transcription	Brain Anterior Caudate	brain
8	chr14:81721200-81742400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:81721400-81739800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:81721600-81733400	Weak transcription	K562	blood
11	chr14:81721600-81739800	Weak transcription	Ovary	ovary
12	chr14:81722600-81741800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:81723000-81734200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr14:81723200-81728400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:81723200-81728600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:81723200-81730200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:81723200-81732000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:81723400-81727400	Weak transcription	Gastric	stomach
19	chr14:81723400-81728200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:81723400-81729000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:81723400-81730200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:81723400-81734000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:81723400-81734200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:81724400-81730200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:81724400-81735400	Weak transcription	Fetal Intestine Large	intestine
26	chr14:81724600-81736400	Weak transcription	Fetal Intestine Small	intestine
27	chr14:81724600-81741800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:81724600-81746000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:81724800-81736400	Weak transcription	Spleen	Spleen
30	chr14:81725000-81739800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:81725000-81740000	Weak transcription	Esophagus	oesophagus
32	chr14:81725000-81743600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr14:81725400-81726400	Strong transcription	Fetal Muscle Leg	muscle
34	chr14:81725400-81729400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:81725600-81726200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr14:81725600-81726400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:81725600-81728200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:81725600-81734000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:81725600-81734400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:81725800-81728400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:81725800-81728800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:81725800-81734200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:81725800-81734200	Strong transcription	NHEK	skin

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