Variant report

Variant	rs1756442
Chromosome Location	chr13:30141530-30141531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30140340..30147664-chr13:30167192..30171255,11	MCF-7	breast:
2	chr13:30139090..30142290-chr13:30166982..30171178,4	K562	blood:
3	chr13:30137163..30140178-chr13:30141147..30143927,3	K562	blood:
4	chr13:30139726..30141978-chr13:30142351..30145103,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1275360	1.00[AMR][1000 genomes]
rs1571785	1.00[AMR][1000 genomes]
rs1756436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1756437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1756438	1.00[AMR][1000 genomes]
rs1756440	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1756441	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1756443	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1756444	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2669039	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2776408	1.00[AMR][1000 genomes]
rs2776409	1.00[AMR][1000 genomes]
rs2776948	1.00[AMR][1000 genomes]
rs2776949	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs280946	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs280947	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs280955	1.00[AMR][1000 genomes]
rs2989343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2989597	1.00[AMR][1000 genomes]
rs3011604	1.00[AMR][1000 genomes]
rs476931	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs521122	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs521924	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs522946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs527380	1.00[AMR][1000 genomes]
rs533768	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs553069	1.00[AMR][1000 genomes]
rs553271	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs554179	1.00[AMR][1000 genomes]
rs554904	1.00[AMR][1000 genomes]
rs558623	1.00[AMR][1000 genomes]
rs577666	1.00[AMR][1000 genomes]
rs595454	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs615487	1.00[AMR][1000 genomes]
rs634006	1.00[AMR][1000 genomes]
rs643986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs645278	1.00[AMR][1000 genomes]
rs645778	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs645783	1.00[AMR][1000 genomes]
rs657993	1.00[AMR][1000 genomes]
rs659314	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7336765	1.00[AMR][1000 genomes]
rs73442120	1.00[AMR][1000 genomes]
rs73442127	1.00[AMR][1000 genomes]
rs73452370	1.00[AMR][1000 genomes]
rs74042327	1.00[AMR][1000 genomes]
rs819390	1.00[AMR][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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30113200-30141600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr13:30125000-30147400	Weak transcription	A549	lung
3	chr13:30125800-30142200	Weak transcription	K562	blood
4	chr13:30125800-30143200	Weak transcription	Gastric	stomach
5	chr13:30126000-30161400	Weak transcription	Primary B cells from cord blood	blood
6	chr13:30126200-30147200	Weak transcription	Spleen	Spleen
7	chr13:30127400-30142200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:30127600-30144000	Weak transcription	Fetal Intestine Small	intestine
9	chr13:30127600-30146200	Weak transcription	Right Ventricle	heart
10	chr13:30127600-30151400	Weak transcription	Aorta	Aorta
11	chr13:30127600-30156400	Weak transcription	Lung	lung
12	chr13:30127800-30143200	Weak transcription	Fetal Thymus	thymus
13	chr13:30127800-30147400	Weak transcription	Fetal Intestine Large	intestine
14	chr13:30127800-30147600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr13:30128000-30143600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr13:30128000-30146800	Weak transcription	HSMMtube	muscle
17	chr13:30128000-30163600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr13:30128200-30143600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr13:30128200-30146000	Weak transcription	Hela-S3	cervix
20	chr13:30128200-30147400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr13:30128200-30147400	Weak transcription	Thymus	Thymus
22	chr13:30128400-30143400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr13:30128600-30143400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr13:30128600-30146600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr13:30128600-30147400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr13:30128600-30161800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr13:30128800-30143400	Weak transcription	Dnd41	blood
28	chr13:30128800-30155800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr13:30128800-30168200	Weak transcription	Primary T cells from cord blood	blood
30	chr13:30129000-30143200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr13:30131400-30147800	Weak transcription	Fetal Brain Female	brain
32	chr13:30131800-30147600	Weak transcription	GM12878-XiMat	blood
33	chr13:30136000-30141600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:30136400-30146800	Weak transcription	NHLF	lung
35	chr13:30136800-30142600	Weak transcription	HepG2	liver
36	chr13:30137200-30141600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr13:30137200-30151000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:30137400-30147400	Weak transcription	Brain Angular Gyrus	brain
39	chr13:30137800-30143200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:30137800-30147000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr13:30138000-30143200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:30138000-30144200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr13:30138400-30143200	Weak transcription	Colon Smooth Muscle	Colon
44	chr13:30138400-30143200	Weak transcription	Pancreas	Pancrea
45	chr13:30138600-30147200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr13:30138600-30154000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr13:30138800-30143000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:30138800-30143600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr13:30138800-30143600	Weak transcription	HSMM	muscle
50	chr13:30138800-30146800	Weak transcription	Fetal Muscle Leg	muscle

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