Variant report

Variant	rs7148073
Chromosome Location	chr14:68777042-68777043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68770678..68778907-chr14:69255944..69264299,32	MCF-7	breast:
2	chr14:68771546..68782546-chr14:69251132..69265678,35	MCF-7	breast:
3	chr14:68774156..68777438-chr14:68786108..68788577,3	MCF-7	breast:
4	chr14:68775479..68777224-chr14:69038956..69041155,2	MCF-7	breast:
5	chr14:68771578..68778202-chr14:68921843..68928978,14	MCF-7	breast:
6	chr14:68408294..68410431-chr14:68776471..68779098,2	MCF-7	breast:
7	chr14:68774488..68779341-chr14:69281641..69286880,6	MCF-7	breast:
8	chr14:68772744..68775505-chr14:68776468..68778745,2	MCF-7	breast:
9	chr14:68710270..68718985-chr14:68771545..68777065,19	MCF-7	breast:
10	chr14:68775195..68777940-chr14:69277333..69279325,2	MCF-7	breast:
11	chr14:68773029..68777937-chr14:68858584..68866534,13	MCF-7	breast:
12	chr14:68776230..68777818-chr14:69035775..69037380,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10141370	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1028577	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10483807	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1108590	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11158728	0.88[CEU][hapmap];0.96[EUR][1000 genomes]
rs11158729	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11158730	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11626138	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11626195	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11627646	0.92[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11628825	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11628890	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11628954	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12878627	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12878858	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12880109	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12880842	0.97[EUR][1000 genomes]
rs12881502	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12883719	0.92[CEU][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12884901	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12885750	0.92[CEU][hapmap];0.91[JPT][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12886238	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12889949	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12890110	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12890124	0.92[CEU][hapmap];0.91[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12890167	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12892777	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12896939	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1956524	0.92[CEU][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1956525	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1956526	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1956528	0.92[CEU][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1956529	0.92[CEU][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1956532	0.92[CEU][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2013413	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2064911	0.92[CEU][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2064912	0.92[CEU][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2145422	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2145423	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2180769	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2180770	0.96[CEU][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2877455	0.89[CEU][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3784104	0.92[CEU][hapmap];0.91[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3784108	0.92[CEU][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3784109	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3825730	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61985135	0.99[EUR][1000 genomes]
rs61985136	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7146850	0.92[CEU][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7147852	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7148412	0.80[CHB][hapmap]
rs7150988	0.92[CEU][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7155473	0.91[EUR][1000 genomes]
rs7158493	0.92[CEU][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8013078	0.80[CHB][hapmap]
rs8017304	0.92[CEU][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs911254	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs911258	0.95[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68769000-68810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68772000-68777800	Enhancers	Fetal Kidney	kidney
3	chr14:68772000-68788400	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:68772600-68788000	Weak transcription	Lung	lung
5	chr14:68774200-68777800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:68774400-68785200	Weak transcription	Psoas Muscle	Psoas
7	chr14:68774800-68778000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:68774800-68778400	Enhancers	Primary B cells from cord blood	blood
9	chr14:68774800-68779000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:68774800-68779600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:68774800-68780200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:68775000-68779000	Weak transcription	HepG2	liver
13	chr14:68775000-68779400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:68775600-68777200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:68775600-68777200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:68775600-68777400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:68775600-68779000	Enhancers	Primary T cells from cord blood	blood
18	chr14:68775600-68780000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:68775800-68779000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:68775800-68779200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:68775800-68780000	Weak transcription	Fetal Brain Male	brain
22	chr14:68775800-68781000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:68776000-68777200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:68776000-68777200	Enhancers	HUVEC	blood vessel
25	chr14:68776000-68777400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:68776000-68778000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr14:68776000-68779000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:68776000-68779000	Weak transcription	Liver	Liver
29	chr14:68776000-68779800	Weak transcription	Brain Anterior Caudate	brain
30	chr14:68776200-68779400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:68776200-68779600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:68776200-68779800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:68776200-68779800	Weak transcription	Brain Angular Gyrus	brain
34	chr14:68776200-68780000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr14:68776200-68781800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr14:68776200-68789400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:68776400-68777200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr14:68776400-68777400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:68776400-68778400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr14:68776400-68785400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:68776600-68777400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:68776600-68777400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr14:68776600-68779000	Enhancers	GM12878-XiMat	blood
44	chr14:68776600-68779600	Weak transcription	Fetal Muscle Leg	muscle
45	chr14:68776600-68779600	Weak transcription	Fetal Stomach	stomach
46	chr14:68776600-68780000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:68776600-68780000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr14:68776600-68780000	Weak transcription	Spleen	Spleen
49	chr14:68776600-68780200	Weak transcription	Brain Substantia Nigra	brain
50	chr14:68776600-68780200	Weak transcription	Ovary	ovary

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