Variant report

Variant	rs7997827
Chromosome Location	chr13:30142474-30142475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30139726..30141978-chr13:30142351..30145103,3	MCF-7	breast:
2	chr13:30140340..30147664-chr13:30167192..30171255,11	MCF-7	breast:
3	chr13:30137163..30140178-chr13:30141147..30143927,3	K562	blood:
4	chr13:30141734..30150637-chr13:30164575..30171336,12	MCF-7	breast:
5	chr13:30142186..30144552-chr13:30152474..30154361,2	MCF-7	breast:
6	chr13:30142261..30144231-chr13:30163491..30165148,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1018679	0.89[CHB][hapmap]
rs11839516	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12428026	0.81[CHB][hapmap];0.88[CHD][hapmap]
rs166828	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17073593	1.00[MKK][hapmap]
rs1877463	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2150688	0.80[CHB][hapmap]
rs2150690	0.81[CHB][hapmap]
rs2236499	0.90[CHB][hapmap]
rs2277451	0.80[CHB][hapmap]
rs2802249	0.81[CHB][hapmap]
rs280922	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs280923	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs280924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs280925	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs280926	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs280928	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs280930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs280931	0.88[ASN][1000 genomes]
rs280933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs280934	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs280936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2989594	0.81[CHB][hapmap]
rs3011605	0.81[CHB][hapmap]
rs3783257	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs3783259	0.81[CHB][hapmap]
rs3783260	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs3783262	0.81[CHB][hapmap]
rs3783263	0.81[CHB][hapmap]
rs3803266	0.85[CHB][hapmap]
rs3825536	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs476506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs485359	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs532568	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs537151	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs579451	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs617892	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6490409	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs7338758	0.85[CHB][hapmap]
rs7986532	1.00[MKK][hapmap]
rs7991883	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs819386	0.93[ASN][1000 genomes]
rs914362	0.81[CHB][hapmap];0.94[MEX][hapmap]
rs9550482	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs9551696	0.86[CHB][hapmap]
rs9551699	1.00[ASW][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.89[MEX][hapmap];0.84[ASN][1000 genomes]
rs9551700	0.86[CHB][hapmap]
rs9551701	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv979	chr13:30122254-30167821	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30125000-30147400	Weak transcription	A549	lung
2	chr13:30125800-30143200	Weak transcription	Gastric	stomach
3	chr13:30126000-30161400	Weak transcription	Primary B cells from cord blood	blood
4	chr13:30126200-30147200	Weak transcription	Spleen	Spleen
5	chr13:30127600-30144000	Weak transcription	Fetal Intestine Small	intestine
6	chr13:30127600-30146200	Weak transcription	Right Ventricle	heart
7	chr13:30127600-30151400	Weak transcription	Aorta	Aorta
8	chr13:30127600-30156400	Weak transcription	Lung	lung
9	chr13:30127800-30143200	Weak transcription	Fetal Thymus	thymus
10	chr13:30127800-30147400	Weak transcription	Fetal Intestine Large	intestine
11	chr13:30127800-30147600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr13:30128000-30143600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr13:30128000-30146800	Weak transcription	HSMMtube	muscle
14	chr13:30128000-30163600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr13:30128200-30143600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr13:30128200-30146000	Weak transcription	Hela-S3	cervix
17	chr13:30128200-30147400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr13:30128200-30147400	Weak transcription	Thymus	Thymus
19	chr13:30128400-30143400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr13:30128600-30143400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr13:30128600-30146600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr13:30128600-30147400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr13:30128600-30161800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr13:30128800-30143400	Weak transcription	Dnd41	blood
25	chr13:30128800-30155800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr13:30128800-30168200	Weak transcription	Primary T cells from cord blood	blood
27	chr13:30129000-30143200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr13:30131400-30147800	Weak transcription	Fetal Brain Female	brain
29	chr13:30131800-30147600	Weak transcription	GM12878-XiMat	blood
30	chr13:30136400-30146800	Weak transcription	NHLF	lung
31	chr13:30136800-30142600	Weak transcription	HepG2	liver
32	chr13:30137200-30151000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:30137400-30147400	Weak transcription	Brain Angular Gyrus	brain
34	chr13:30137800-30143200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:30137800-30147000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr13:30138000-30143200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:30138000-30144200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr13:30138400-30143200	Weak transcription	Colon Smooth Muscle	Colon
39	chr13:30138400-30143200	Weak transcription	Pancreas	Pancrea
40	chr13:30138600-30147200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr13:30138600-30154000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr13:30138800-30143000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:30138800-30143600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr13:30138800-30143600	Weak transcription	HSMM	muscle
45	chr13:30138800-30146800	Weak transcription	Fetal Muscle Leg	muscle
46	chr13:30138800-30155800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr13:30138800-30159800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr13:30139000-30147000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr13:30139600-30142600	Weak transcription	NH-A	brain
50	chr13:30139600-30143200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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