Variant report

Variant	rs2776607
Chromosome Location	chr14:64655907-64655908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10162323	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12435376	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1953234	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2027094	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2256191	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2781379	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2781380	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6573547	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573548	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7148072	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7148637	0.83[EUR][1000 genomes]
rs872227	0.80[EUR][1000 genomes]
rs968257	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv902021	chr14:64647646-64715794	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2776607	ESR2	Cis_1M	lymphoblastoid	RTeQTL
rs2776607	MTHFD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64600600-64667400	Weak transcription	Stomach Mucosa	stomach
2	chr14:64625000-64658000	Weak transcription	HUVEC	blood vessel
3	chr14:64627200-64660400	Weak transcription	Fetal Heart	heart
4	chr14:64636400-64658400	Weak transcription	HMEC	breast
5	chr14:64636800-64662600	Weak transcription	Psoas Muscle	Psoas
6	chr14:64637400-64656800	Weak transcription	Hela-S3	cervix
7	chr14:64637400-64663600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:64639200-64658000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:64640000-64663400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr14:64640200-64658000	Weak transcription	NHEK	skin
11	chr14:64644600-64658800	Weak transcription	NHLF	lung
12	chr14:64645200-64661000	Weak transcription	Primary B cells from cord blood	blood
13	chr14:64645800-64661400	Weak transcription	Small Intestine	intestine
14	chr14:64645800-64663600	Weak transcription	Colonic Mucosa	Colon
15	chr14:64646200-64656200	Weak transcription	Fetal Thymus	thymus
16	chr14:64650400-64660000	Strong transcription	Aorta	Aorta
17	chr14:64650400-64660000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr14:64650400-64660200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:64650400-64660600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr14:64650800-64658200	Strong transcription	Placenta	Placenta
21	chr14:64650800-64659800	Strong transcription	Left Ventricle	heart
22	chr14:64650800-64661400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:64650800-64661600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:64650800-64663200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr14:64650800-64671800	Strong transcription	Liver	Liver
26	chr14:64651000-64660400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr14:64651400-64659400	Weak transcription	Right Ventricle	heart
28	chr14:64651600-64657400	Strong transcription	GM12878-XiMat	blood
29	chr14:64651600-64662600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr14:64651800-64656400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:64651800-64661000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:64652000-64658000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:64652000-64661400	Weak transcription	Fetal Kidney	kidney
34	chr14:64652000-64662800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:64652600-64658000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:64652800-64658000	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr14:64652800-64659000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:64652800-64660000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr14:64652800-64666200	Strong transcription	Dnd41	blood
40	chr14:64653000-64658200	Strong transcription	Esophagus	oesophagus
41	chr14:64653000-64658600	Strong transcription	Lung	lung
42	chr14:64653000-64659800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:64653000-64660000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:64653000-64660000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr14:64653000-64660400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:64653000-64660800	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:64653000-64661200	Strong transcription	Fetal Intestine Large	intestine
48	chr14:64653000-64664000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr14:64653200-64657600	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:64653200-64657800	Strong transcription	Fetal Brain Female	brain

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