Variant report

Variant	rs7144307
Chromosome Location	chr14:69533837-69533838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69446437..69448234-chr14:69533386..69535610,2	MCF-7	breast:
2	chr14:69527663..69529780-chr14:69532425..69536025,3	K562	blood:

Variant related genes	Relation type
ENSG00000259062	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10083451	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs10129883	0.80[YRI][hapmap]
rs10130013	0.88[CEU][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap]
rs10134594	0.84[YRI][hapmap]
rs10139873	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs10143302	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs10145565	0.88[CEU][hapmap]
rs10146339	0.88[CEU][hapmap]
rs10147369	0.88[CEU][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap]
rs10148614	0.80[CEU][hapmap]
rs10149232	0.88[CEU][hapmap]
rs10498526	0.92[YRI][hapmap]
rs11158782	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs11158787	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs11158790	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs11158795	0.85[GIH][hapmap]
rs11622889	0.88[CEU][hapmap];0.89[GIH][hapmap]
rs12431846	0.88[CEU][hapmap];0.89[GIH][hapmap]
rs12434775	0.88[CEU][hapmap];0.89[GIH][hapmap]
rs12435594	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs12589028	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs12879406	0.88[CEU][hapmap]
rs2001998	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs2056153	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs2331918	0.84[CEU][hapmap]
rs28613298	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs28710350	0.92[YRI][hapmap]
rs2877524	0.96[YRI][hapmap]
rs3211166	0.83[GIH][hapmap]
rs4899280	0.88[CEU][hapmap]
rs6573869	0.88[CEU][hapmap]
rs7160629	0.88[CEU][hapmap]
rs8008184	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs9323524	0.88[CEU][hapmap];0.83[MEX][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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7144307	SYNE2	cis	cerebellum	SCAN
rs7144307	WDR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69516200-69541800	Strong transcription	Primary T cells from cord blood	blood
2	chr14:69518400-69557200	Weak transcription	Hela-S3	cervix
3	chr14:69518800-69537000	Strong transcription	Fetal Muscle Trunk	muscle
4	chr14:69519000-69537000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:69519000-69537200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr14:69519200-69544600	Weak transcription	Stomach Mucosa	stomach
7	chr14:69519400-69534200	Strong transcription	Primary B cells from cord blood	blood
8	chr14:69519600-69546000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:69520000-69534800	Strong transcription	Placenta	Placenta
10	chr14:69521000-69540600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:69522200-69539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:69522400-69556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:69522600-69545600	Weak transcription	Pancreas	Pancrea
15	chr14:69523400-69535600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:69523400-69535800	Weak transcription	Aorta	Aorta
17	chr14:69523600-69535400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:69523600-69545600	Weak transcription	Right Ventricle	heart
19	chr14:69523600-69550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:69523600-69553400	Weak transcription	Brain Angular Gyrus	brain
21	chr14:69523600-69556400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:69523800-69535800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:69524000-69557600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:69524800-69556600	Weak transcription	Fetal Brain Male	brain
25	chr14:69525800-69534400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:69526800-69545600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr14:69527000-69535600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:69527000-69545800	Weak transcription	Psoas Muscle	Psoas
29	chr14:69527000-69558200	Weak transcription	Esophagus	oesophagus
30	chr14:69527200-69535000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:69527200-69535400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:69527200-69535600	Weak transcription	HUVEC	blood vessel
33	chr14:69527400-69535600	Weak transcription	NHLF	lung
34	chr14:69528000-69536200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:69528200-69539600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr14:69528600-69534600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:69528600-69535600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:69528600-69535800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:69528600-69539200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:69528600-69540200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:69528600-69545400	Weak transcription	Gastric	stomach
42	chr14:69528600-69547000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:69528600-69547800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr14:69528600-69550600	Weak transcription	Spleen	Spleen
45	chr14:69528600-69560200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:69528800-69536000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:69528800-69550600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr14:69529200-69535400	Weak transcription	HMEC	breast
49	chr14:69529200-69535800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:69529200-69538600	Weak transcription	Brain Hippocampus Middle	brain

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