Variant report

Variant	rs7141155
Chromosome Location	chr14:72023372-72023373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71787679..71789228-chr14:72021857..72023772,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197555	Chromatin interaction
ENSG00000259146	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10129301	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10136590	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10143346	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10147863	0.88[ASW][hapmap];0.80[LWK][hapmap];0.91[YRI][hapmap]
rs11627930	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11628525	0.96[CEU][hapmap];0.84[GIH][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs12878009	0.81[CEU][hapmap]
rs12897119	0.82[CEU][hapmap]
rs12897977	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1859551	0.88[CHD][hapmap];0.95[GIH][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.88[TSI][hapmap];0.86[YRI][hapmap]
rs193440	0.88[JPT][hapmap];0.86[YRI][hapmap]
rs35958404	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3784063	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4464023	0.82[CEU][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap]
rs4902939	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6574014	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7145435	0.91[YRI][hapmap]
rs8007521	0.82[CEU][hapmap];0.86[YRI][hapmap]
rs8023058	0.97[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.86[YRI][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	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7141155	SLC8A3	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72018000-72030000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:72019400-72023800	Enhancers	Primary B cells from peripheral blood	blood
3	chr14:72019600-72024400	Enhancers	Fetal Intestine Large	intestine
4	chr14:72020000-72024000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:72020800-72023400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr14:72021000-72024400	Enhancers	Fetal Intestine Small	intestine
7	chr14:72021200-72023400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:72021200-72023400	Flanking Active TSS	Dnd41	blood
9	chr14:72021200-72023800	Enhancers	Hela-S3	cervix
10	chr14:72021800-72023600	Enhancers	HepG2	liver
11	chr14:72021800-72023800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr14:72021800-72023800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:72021800-72023800	Enhancers	Fetal Thymus	thymus
14	chr14:72021800-72023800	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr14:72021800-72023800	Enhancers	Small Intestine	intestine
16	chr14:72021800-72023800	Enhancers	K562	blood
17	chr14:72022000-72023600	Enhancers	Colonic Mucosa	Colon
18	chr14:72022000-72024400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:72022200-72024400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:72022200-72024400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr14:72022400-72023400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr14:72022400-72023600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:72022400-72023800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr14:72022400-72024600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr14:72022400-72024800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:72022600-72023400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr14:72022600-72023600	Enhancers	Primary hematopoietic stem cells	blood
28	chr14:72022600-72023800	Enhancers	Spleen	Spleen
29	chr14:72022600-72024000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr14:72022600-72024200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr14:72022600-72024400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:72022600-72024400	Enhancers	Thymus	Thymus
33	chr14:72022600-72024800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:72022600-72040200	Weak transcription	Osteobl	bone
35	chr14:72022800-72023400	Enhancers	Brain Substantia Nigra	brain
36	chr14:72022800-72023400	Enhancers	Fetal Heart	heart
37	chr14:72022800-72023800	Enhancers	Duodenum Mucosa	Duodenum
38	chr14:72022800-72023800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr14:72022800-72024600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr14:72022800-72025400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:72022800-72025400	Enhancers	Primary T cells from cord blood	blood
42	chr14:72023000-72023400	Enhancers	Placenta	Placenta
43	chr14:72023000-72023400	Enhancers	Pancreas	Pancrea
44	chr14:72023000-72023800	Enhancers	Brain Angular Gyrus	brain
45	chr14:72023000-72024200	Enhancers	Primary B cells from cord blood	blood
46	chr14:72023200-72023400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr14:72023200-72023400	Enhancers	HSMM	muscle
48	chr14:72023200-72023600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr14:72023200-72023600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr14:72023200-72023600	Enhancers	GM12878-XiMat	blood

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