Variant report

Variant	rs728589
Chromosome Location	chr6:143172013-143172014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143171301..143176697-chr6:143264648..143267813,7	MCF-7	breast:
2	chr6:143169186..143172085-chr6:143184516..143186851,2	MCF-7	breast:
3	chr6:143164077..143167005-chr6:143171548..143173289,2	K562	blood:

Variant related genes	Relation type
ENSG00000010818	Chromatin interaction

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];0.96[CHD][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]
rs12192692	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];0.92[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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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	0.93[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]
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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143167200-143172800	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:143167200-143172800	Enhancers	Adipose Nuclei	Adipose
3	chr6:143167200-143177000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:143167400-143172600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr6:143167400-143175000	Weak transcription	Right Ventricle	heart
6	chr6:143167800-143174800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:143167800-143176600	Enhancers	Primary T cells from cord blood	blood
8	chr6:143168200-143176000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:143168400-143172200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:143168400-143172200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:143168400-143172200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:143168400-143173400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:143168400-143174400	Weak transcription	Lung	lung
14	chr6:143168400-143174400	Weak transcription	Pancreas	Pancrea
15	chr6:143168400-143174800	Weak transcription	Right Atrium	heart
16	chr6:143168400-143174800	Weak transcription	Spleen	Spleen
17	chr6:143168400-143175200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:143168400-143175200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:143168400-143175600	Weak transcription	Dnd41	blood
20	chr6:143168400-143176200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:143168400-143177400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:143168400-143177600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr6:143168400-143178600	Weak transcription	Fetal Stomach	stomach
24	chr6:143168400-143179000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:143168400-143179400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:143168400-143188600	Weak transcription	Aorta	Aorta
27	chr6:143168600-143172200	Weak transcription	A549	lung
28	chr6:143168600-143172800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:143168600-143172800	Weak transcription	Brain Hippocampus Middle	brain
30	chr6:143168600-143173200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr6:143168600-143173600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:143168800-143175200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:143169200-143175800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:143169200-143178600	Weak transcription	Fetal Brain Female	brain
35	chr6:143169400-143172800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr6:143169400-143174200	Enhancers	NHDF-Ad	bronchial
37	chr6:143169400-143176200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr6:143169600-143173000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr6:143169600-143173200	Enhancers	Fetal Intestine Small	intestine
40	chr6:143169600-143173200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr6:143169600-143174800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr6:143169800-143173200	Enhancers	Duodenum Mucosa	Duodenum
43	chr6:143169800-143174800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:143170000-143172200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:143170000-143172200	Weak transcription	Fetal Heart	heart
46	chr6:143170000-143172400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr6:143170000-143173000	Enhancers	Fetal Intestine Large	intestine
48	chr6:143170200-143172400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:143170600-143174200	Weak transcription	Stomach Mucosa	stomach
50	chr6:143170800-143172400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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