Variant report

Variant	rs12192692
Chromosome Location	chr6:143177430-143177431
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	chr6:143173616..143176330-chr6:143177113..143179367,3	MCF-7	breast:
2	chr6:143175982..143177765-chr6:143180458..143183206,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11155265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969311	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12190015	0.82[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs12190804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194338	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12194808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196693	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199711	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12201734	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12201987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12203708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208876	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12210048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12214573	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17444447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198661	0.86[EUR][1000 genomes]
rs2142938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2184364	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2876528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349826	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4492208	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62430707	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62430709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62430712	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62430713	0.95[EUR][1000 genomes]
rs62432360	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62432362	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6905453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6910072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6912129	0.86[CEU][hapmap];0.84[AMR][1000 genomes]
rs6925118	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6927858	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs728589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72990282	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72995085	0.88[EUR][1000 genomes]
rs7758383	0.89[ASN][1000 genomes]
rs972119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv538459	chr6:143165802-143360098	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143168400-143177600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:143168400-143178600	Weak transcription	Fetal Stomach	stomach
3	chr6:143168400-143179000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:143168400-143179400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:143168400-143188600	Weak transcription	Aorta	Aorta
6	chr6:143169200-143178600	Weak transcription	Fetal Brain Female	brain
7	chr6:143172000-143179400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:143173200-143178000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:143173200-143182400	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:143173200-143188600	Weak transcription	Fetal Intestine Small	intestine
11	chr6:143173400-143179600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:143173600-143177800	Enhancers	HSMMtube	muscle
13	chr6:143173600-143188200	Weak transcription	NHLF	lung
14	chr6:143173800-143179600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr6:143174200-143179600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr6:143174400-143177600	Enhancers	Thymus	Thymus
17	chr6:143174400-143178000	Enhancers	Brain Angular Gyrus	brain
18	chr6:143174400-143178000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr6:143174400-143178200	Enhancers	Brain Hippocampus Middle	brain
20	chr6:143174400-143179600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:143174600-143177600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:143174600-143178000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr6:143174800-143179000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:143175200-143178200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:143175200-143179600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:143175200-143179600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr6:143175400-143178000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:143175400-143178600	Weak transcription	Colonic Mucosa	Colon
29	chr6:143175400-143181800	Weak transcription	Spleen	Spleen
30	chr6:143175400-143182800	Weak transcription	Right Ventricle	heart
31	chr6:143175400-143185200	Weak transcription	Right Atrium	heart
32	chr6:143175600-143180600	Enhancers	Dnd41	blood
33	chr6:143175600-143181600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:143175600-143181800	Weak transcription	HMEC	breast
35	chr6:143175600-143192000	Weak transcription	NHEK	skin
36	chr6:143175600-143192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:143175600-143192800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:143175800-143177800	Enhancers	Brain Substantia Nigra	brain
39	chr6:143175800-143178200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr6:143175800-143178600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:143175800-143179400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:143175800-143179600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:143175800-143179800	Flanking Active TSS	GM12878-XiMat	blood
44	chr6:143176000-143177600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:143176000-143178400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr6:143176200-143177800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr6:143176200-143178000	Weak transcription	Adipose Nuclei	Adipose
48	chr6:143176200-143178000	Weak transcription	NH-A	brain
49	chr6:143176200-143178200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:143176200-143179600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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