Variant report

Variant	rs932554
Chromosome Location	chr14:68293923-68293924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68286508..68288544-chr14:68291515..68294368,2	MCF-7	breast:
2	chr14:68286637..68289233-chr14:68289938..68294161,6	MCF-7	breast:
3	chr14:68289646..68291323-chr14:68292469..68294263,2	K562	blood:

Variant related genes	Relation type
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10130919	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10131048	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10132318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10133239	1.00[ASN][1000 genomes]
rs10137614	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10137930	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10146380	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1015023	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10873208	1.00[ASN][1000 genomes]
rs11158693	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11158695	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11158697	1.00[ASN][1000 genomes]
rs11622521	1.00[ASN][1000 genomes]
rs11622535	1.00[ASN][1000 genomes]
rs11623756	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11624166	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11626594	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11626778	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11627100	1.00[ASN][1000 genomes]
rs11627417	1.00[ASN][1000 genomes]
rs11627565	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11844492	1.00[ASN][1000 genomes]
rs12586329	0.95[ASN][1000 genomes]
rs12588401	0.95[ASN][1000 genomes]
rs12886915	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12891047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12892221	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12896666	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17104681	0.88[CHD][hapmap]
rs17104700	0.88[CHD][hapmap]
rs17783124	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17783160	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs181563	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.86[MKK][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs181566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1950769	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1955470	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1956345	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1956347	1.00[ASN][1000 genomes]
rs1956348	1.00[ASN][1000 genomes]
rs28373844	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28604984	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28623567	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2874131	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3742884	0.88[CHD][hapmap]
rs4902517	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4902518	0.95[ASN][1000 genomes]
rs4902519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs55854324	0.88[EUR][1000 genomes]
rs55867043	0.88[EUR][1000 genomes]
rs55999745	1.00[ASN][1000 genomes]
rs7143196	0.85[MEX][hapmap]
rs7143521	0.88[CHD][hapmap]
rs7150860	0.88[CHD][hapmap]
rs7151091	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7154635	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7157288	0.88[ASN][1000 genomes]
rs7159109	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7159489	0.85[AFR][1000 genomes]
rs72723202	0.88[EUR][1000 genomes]
rs767972	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8003431	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8009358	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8009455	0.85[ASN][1000 genomes]
rs8011393	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs8017007	0.85[ASN][1000 genomes]
rs8017013	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8018709	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs932555	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs961700	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs986382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68287200-68303600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:68287400-68296400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:68287400-68297200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr14:68287400-68304800	Weak transcription	Lung	lung
5	chr14:68287400-68312800	Weak transcription	Aorta	Aorta
6	chr14:68287400-68312800	Weak transcription	Esophagus	oesophagus
7	chr14:68287400-68315200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:68287600-68294000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:68287600-68294400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:68287600-68295000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:68287600-68295400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:68287600-68296000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:68287600-68298000	Weak transcription	Brain Anterior Caudate	brain
14	chr14:68287600-68301400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:68287600-68302800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:68287600-68303600	Weak transcription	Colon Smooth Muscle	Colon
17	chr14:68287600-68303800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:68287600-68304800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:68287600-68306000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:68287600-68317800	Weak transcription	Spleen	Spleen
21	chr14:68287800-68294200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr14:68287800-68295200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:68287800-68295400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:68287800-68296200	Weak transcription	Brain Substantia Nigra	brain
25	chr14:68287800-68300600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:68287800-68304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr14:68287800-68305000	Weak transcription	Fetal Kidney	kidney
28	chr14:68287800-68306400	Weak transcription	Fetal Lung	lung
29	chr14:68287800-68310600	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:68287800-68318200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr14:68288000-68295000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:68288000-68295400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:68288000-68296000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:68288000-68297200	Weak transcription	Primary T cells from cord blood	blood
35	chr14:68288000-68298800	Weak transcription	Adipose Nuclei	Adipose
36	chr14:68288000-68300200	Weak transcription	NHEK	skin
37	chr14:68288000-68306400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:68288000-68306400	Weak transcription	HepG2	liver
39	chr14:68288000-68306800	Weak transcription	A549	lung
40	chr14:68288200-68295800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr14:68288200-68298200	Weak transcription	HMEC	breast
42	chr14:68288200-68302400	Weak transcription	GM12878-XiMat	blood
43	chr14:68288200-68304000	Weak transcription	K562	blood
44	chr14:68288200-68306200	Weak transcription	NHDF-Ad	bronchial
45	chr14:68288400-68298200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr14:68288400-68303800	Weak transcription	Liver	Liver
47	chr14:68289600-68304800	Weak transcription	Fetal Intestine Large	intestine
48	chr14:68290600-68295000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:68290800-68294600	Strong transcription	Fetal Muscle Leg	muscle
50	chr14:68290800-68294800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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