Variant report

Variant	rs7143196
Chromosome Location	chr14:68257485-68257486
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	chr14:68250605..68253794-chr14:68255613..68258855,4	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10135927	0.87[ASN][1000 genomes]
rs10141638	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10150007	1.00[ASN][1000 genomes]
rs1040598	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11158694	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11621019	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11621258	1.00[JPT][hapmap]
rs11626332	1.00[JPT][hapmap]
rs11626590	1.00[ASN][1000 genomes]
rs11626769	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12432558	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12433710	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12433779	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12435554	1.00[JPT][hapmap]
rs12891164	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12893157	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1543391	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17192558	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17192586	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17783094	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17783214	1.00[ASW][hapmap]
rs17783304	1.00[JPT][hapmap]
rs1810523	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs181561	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs181562	1.00[ASN][1000 genomes]
rs181564	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs181565	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs181567	1.00[ASN][1000 genomes]
rs181570	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs181574	1.00[ASN][1000 genomes]
rs181576	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1964828	1.00[ASN][1000 genomes]
rs2235967	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2295105	0.80[ASN][1000 genomes]
rs2295106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2295107	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2874132	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2874133	1.00[JPT][hapmap]
rs34759521	0.80[ASN][1000 genomes]
rs35272075	0.87[ASN][1000 genomes]
rs3742879	1.00[JPT][hapmap]
rs4143685	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4284565	1.00[ASN][1000 genomes]
rs55854324	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55867043	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7142433	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7143496	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7145044	1.00[JPT][hapmap]
rs7149482	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7150705	1.00[JPT][hapmap]
rs7150903	1.00[JPT][hapmap]
rs7151495	1.00[JPT][hapmap]
rs7159622	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7159982	1.00[ASN][1000 genomes]
rs72723196	1.00[ASN][1000 genomes]
rs72723202	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725103	1.00[ASN][1000 genomes]
rs72725114	0.87[ASN][1000 genomes]
rs8004611	1.00[ASN][1000 genomes]
rs8011120	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8012974	1.00[ASN][1000 genomes]
rs932554	0.85[MEX][hapmap]

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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68213000-68280800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:68213400-68281200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:68213600-68279600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:68213800-68280600	Strong transcription	Liver	Liver
6	chr14:68214000-68258200	Strong transcription	Brain Germinal Matrix	brain
7	chr14:68214600-68281000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:68214800-68266800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:68214800-68276200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr14:68214800-68280200	Strong transcription	Fetal Thymus	thymus
11	chr14:68216600-68267200	Strong transcription	Fetal Stomach	stomach
12	chr14:68220200-68273000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:68223800-68257600	Strong transcription	Stomach Smooth Muscle	stomach
14	chr14:68224800-68281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:68225000-68281000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:68226000-68257600	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr14:68226200-68257600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:68226200-68257600	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr14:68226200-68281000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:68226400-68257600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr14:68226400-68257600	Strong transcription	Brain Anterior Caudate	brain
22	chr14:68226400-68257600	Strong transcription	Brain Cingulate Gyrus	brain
23	chr14:68226400-68257600	Strong transcription	Brain Hippocampus Middle	brain
24	chr14:68226400-68257600	Strong transcription	Fetal Lung	lung
25	chr14:68226400-68257600	Strong transcription	Ovary	ovary
26	chr14:68226400-68257800	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr14:68226400-68257800	Strong transcription	Primary T cells from cord blood	blood
28	chr14:68226400-68258000	Strong transcription	Dnd41	blood
29	chr14:68226400-68258400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:68226400-68258600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:68226400-68262200	Strong transcription	Fetal Brain Female	brain
32	chr14:68226400-68272800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:68226400-68273200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:68226400-68276000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:68226400-68277800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:68226400-68278200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:68226400-68279800	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr14:68226400-68280600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr14:68226400-68280800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr14:68226400-68280800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:68226400-68281000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:68226600-68257600	Strong transcription	Thymus	Thymus
43	chr14:68226800-68257600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:68226800-68257600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr14:68226800-68257800	Strong transcription	Lung	lung
46	chr14:68226800-68258200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr14:68226800-68280800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:68229200-68272800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:68229200-68281200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:68229800-68281000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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