Variant report

Variant	rs4259269
Chromosome Location	chr6:144794785-144794786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144787813..144789808-chr6:144792898..144795069,2	K562	blood:
2	chr6:144793191..144795370-chr6:144795376..144798079,2	MCF-7	breast:
3	chr6:144793300..144795931-chr6:144801690..144803447,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10447422	0.92[CEU][hapmap];0.95[GIH][hapmap]
rs10457764	0.92[CEU][hapmap];0.95[GIH][hapmap]
rs10499230	0.92[CEU][hapmap];0.95[GIH][hapmap]
rs11155359	0.85[CEU][hapmap]
rs11155367	0.84[CEU][hapmap]
rs11756963	0.84[CEU][hapmap]
rs12190718	0.85[CEU][hapmap]
rs12198720	0.84[CEU][hapmap]
rs12200263	0.92[CEU][hapmap]
rs12202537	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12202539	0.92[CEU][hapmap]
rs12204734	0.95[GIH][hapmap]
rs12209699	0.85[CEU][hapmap];0.95[GIH][hapmap];0.96[MKK][hapmap];0.81[YRI][hapmap]
rs12209889	0.92[CEU][hapmap]
rs17793570	0.85[CEU][hapmap]
rs1918749	0.85[CEU][hapmap];0.95[GIH][hapmap]
rs34983431	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4584002	0.91[GIH][hapmap]
rs4896724	0.95[GIH][hapmap]
rs55833104	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6570634	0.93[GIH][hapmap]
rs6908911	0.95[GIH][hapmap]
rs6912724	0.90[GIH][hapmap]
rs7773603	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs9321977	0.90[GIH][hapmap]
rs9496982	0.93[GIH][hapmap]
rs9497026	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1023014	chr6:144717963-144806691	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886739	chr6:144719765-144796516	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144741000-144801800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:144756000-144810600	Weak transcription	Small Intestine	intestine
3	chr6:144763000-144813800	Weak transcription	Brain Anterior Caudate	brain
4	chr6:144764400-144838800	Weak transcription	A549	lung
5	chr6:144771400-144815800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:144771800-144811800	Weak transcription	Stomach Mucosa	stomach
7	chr6:144778600-144813800	Weak transcription	Hela-S3	cervix
8	chr6:144780600-144794800	Weak transcription	NHDF-Ad	bronchial
9	chr6:144781000-144801000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:144781800-144806600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr6:144782000-144799600	Weak transcription	Psoas Muscle	Psoas
12	chr6:144782000-144806600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:144782000-144806600	Weak transcription	Brain Substantia Nigra	brain
14	chr6:144782000-144806600	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:144782000-144806600	Weak transcription	Spleen	Spleen
16	chr6:144782000-144809800	Weak transcription	Gastric	stomach
17	chr6:144782200-144806600	Weak transcription	Colonic Mucosa	Colon
18	chr6:144782400-144801200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:144782800-144801000	Weak transcription	NH-A	brain
20	chr6:144783200-144795800	Weak transcription	Aorta	Aorta
21	chr6:144783400-144798800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr6:144783600-144794800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr6:144783800-144802800	Weak transcription	NHLF	lung
24	chr6:144784600-144796000	Weak transcription	Fetal Kidney	kidney
25	chr6:144784600-144812000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:144784800-144795400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:144784800-144795600	Weak transcription	Placenta	Placenta
28	chr6:144785000-144801000	Weak transcription	Right Ventricle	heart
29	chr6:144785800-144794800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr6:144786200-144795800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:144786200-144796000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:144786200-144796000	Weak transcription	Lung	lung
33	chr6:144787800-144796200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:144788400-144795400	Weak transcription	HUVEC	blood vessel
35	chr6:144788600-144797200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:144788600-144806400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:144788600-144808800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:144788800-144795400	Weak transcription	HMEC	breast
39	chr6:144788800-144796800	Weak transcription	Fetal Stomach	stomach
40	chr6:144788800-144798200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:144788800-144799600	Weak transcription	Pancreas	Pancrea
42	chr6:144788800-144801000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:144788800-144801000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:144788800-144812000	Weak transcription	Esophagus	oesophagus
45	chr6:144788800-144821600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:144789000-144795200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:144789400-144794800	Weak transcription	HSMMtube	muscle
48	chr6:144789400-144794800	Weak transcription	Osteobl	bone
49	chr6:144789400-144795000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:144789400-144795400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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