Variant report

Variant	rs11070711
Chromosome Location	chr15:49916416-49916417
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:49916247-49916527	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr15:49916157-49916731	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr15:49916254-49916654	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr15:49916248-49916472	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49914708..49917210-chr15:49937827..49939413,2	MCF-7	breast:
2	chr15:49318492..49320476-chr15:49915801..49917383,2	K562	blood:

Variant related genes	Relation type
FAM227B	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11070698	1.00[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070707	0.84[YRI][hapmap]
rs12591799	1.00[CEU][hapmap]
rs12592177	1.00[CEU][hapmap]
rs12592296	1.00[CEU][hapmap]
rs12594154	1.00[CEU][hapmap]
rs12594827	1.00[CEU][hapmap]
rs12901416	0.82[YRI][hapmap]
rs12902107	0.82[YRI][hapmap]
rs12902794	0.82[YRI][hapmap]
rs1354919	1.00[CEU][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1507619	0.81[AFR][1000 genomes]
rs1546425	0.81[YRI][hapmap]
rs1580996	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs1580997	1.00[CEU][hapmap];0.84[YRI][hapmap]
rs1848290	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874614	1.00[CEU][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2089471	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413958	0.82[YRI][hapmap]
rs4375606	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4396481	1.00[CEU][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7178101	0.84[YRI][hapmap]
rs8040436	0.81[YRI][hapmap]
rs967892	0.83[YRI][hapmap]
rs967893	0.84[YRI][hapmap]

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	nsv569392	chr15:49789413-49926300	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv431388	chr15:49835663-49997483	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49911600-49916600	Active TSS	GM12878-XiMat	blood
2	chr15:49913600-49916600	Flanking Active TSS	Osteobl	bone
3	chr15:49913600-49937400	Weak transcription	Spleen	Spleen
4	chr15:49913800-49916600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:49914000-49917000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:49914000-49917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:49914000-49917800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:49914000-49917800	Weak transcription	Esophagus	oesophagus
9	chr15:49914000-49917800	Weak transcription	Left Ventricle	heart
10	chr15:49914000-49917800	Weak transcription	Lung	lung
11	chr15:49914000-49930000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:49914200-49916600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr15:49914400-49916600	Enhancers	Primary T cells from cord blood	blood
14	chr15:49914400-49917400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr15:49914400-49917400	Weak transcription	Placenta	Placenta
16	chr15:49914400-49917600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:49914400-49917800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr15:49914400-49917800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr15:49914400-49917800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr15:49914400-49917800	Weak transcription	Aorta	Aorta
21	chr15:49914400-49917800	Weak transcription	Colonic Mucosa	Colon
22	chr15:49914400-49917800	Weak transcription	Fetal Intestine Large	intestine
23	chr15:49914400-49917800	Weak transcription	Gastric	stomach
24	chr15:49914400-49917800	Weak transcription	Right Ventricle	heart
25	chr15:49914400-49918000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr15:49914400-49918000	Weak transcription	Thymus	Thymus
27	chr15:49914400-49927200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr15:49914400-49936400	Weak transcription	Small Intestine	intestine
29	chr15:49914400-49938000	Weak transcription	Brain Substantia Nigra	brain
30	chr15:49914600-49916600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr15:49914600-49916800	Weak transcription	Liver	Liver
32	chr15:49914600-49917000	Weak transcription	A549	lung
33	chr15:49914600-49917000	Weak transcription	HUVEC	blood vessel
34	chr15:49914600-49917400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:49914600-49917600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:49914600-49917800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr15:49914600-49917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:49914600-49917800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:49914600-49917800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr15:49914600-49927200	Weak transcription	Fetal Brain Female	brain
41	chr15:49914600-49932600	Weak transcription	Fetal Brain Male	brain
42	chr15:49914600-49934400	Weak transcription	Stomach Mucosa	stomach
43	chr15:49914800-49916800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:49914800-49917000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr15:49914800-49917000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr15:49914800-49917400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:49914800-49917400	Weak transcription	NHEK	skin
48	chr15:49914800-49917800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr15:49914800-49937800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr15:49915000-49917200	Weak transcription	Primary B cells from peripheral blood	blood

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