Variant report

Variant	rs16971263
Chromosome Location	chr15:41278174-41278175
allele	C/T
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	CEBPB	chr15:41277871-41278194	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41274207..41275810-chr15:41276649..41279377,2	K562	blood:
2	chr15:41225052..41227814-chr15:41277173..41281104,3	K562	blood:
3	chr15:41276343..41279940-chr15:41283285..41287659,3	K562	blood:

Variant related genes	Relation type
INO80	TF binding region
ENSG00000128908	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10152296	0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs10438297	0.88[AFR][1000 genomes]
rs11070319	0.88[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070320	0.83[AMR][1000 genomes]
rs11630905	0.88[AMR][1000 genomes]
rs16971013	1.00[MEX][hapmap]
rs16971264	1.00[MEX][hapmap]
rs16971413	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16971463	0.88[ASW][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs16971507	1.00[MEX][hapmap]
rs2007255	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs2412599	1.00[TSI][hapmap]
rs2412600	0.90[MKK][hapmap];1.00[TSI][hapmap]
rs28455970	0.83[AMR][1000 genomes]
rs28528813	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2899010	0.82[YRI][hapmap];0.83[AMR][1000 genomes]
rs2925344	1.00[MEX][hapmap]
rs2925348	0.88[AMR][1000 genomes]
rs2925349	0.83[AMR][1000 genomes]
rs2928147	0.83[AMR][1000 genomes]
rs2928149	0.83[AMR][1000 genomes]
rs2928150	0.83[AMR][1000 genomes]
rs2928154	0.83[AMR][1000 genomes]
rs2947492	0.88[AMR][1000 genomes]
rs2947496	0.88[AMR][1000 genomes]
rs2955812	0.83[AMR][1000 genomes]
rs3101435	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3101438	0.88[ASW][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs3101440	1.00[MEX][hapmap]
rs3101441	0.88[AMR][1000 genomes]
rs4468583	0.83[AMR][1000 genomes]
rs474351	0.88[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs480549	0.83[AMR][1000 genomes]
rs487779	0.83[AMR][1000 genomes]
rs4923894	0.83[AMR][1000 genomes]
rs4924533	0.88[ASW][hapmap];0.80[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4924534	0.82[AMR][1000 genomes]
rs496499	0.88[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs513680	0.83[AMR][1000 genomes]
rs518137	0.83[AMR][1000 genomes]
rs525551	0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs538903	0.88[AMR][1000 genomes]
rs56955512	0.83[AMR][1000 genomes]
rs57008457	0.88[AMR][1000 genomes]
rs57385441	0.83[AMR][1000 genomes]
rs58064468	1.00[EUR][1000 genomes]
rs58142514	0.88[AMR][1000 genomes]
rs59405359	0.88[AMR][1000 genomes]
rs59935357	1.00[EUR][1000 genomes]
rs6492975	1.00[EUR][1000 genomes]
rs690773	0.88[ASW][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs691069	0.83[AMR][1000 genomes]
rs691722	0.83[AMR][1000 genomes]
rs692703	0.88[AMR][1000 genomes]
rs7162003	0.88[AMR][1000 genomes]
rs7165020	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs7167166	0.83[AMR][1000 genomes]
rs7169092	1.00[MEX][hapmap]
rs7172555	0.88[ASW][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs7173146	0.83[AMR][1000 genomes]
rs7174513	0.88[ASW][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs7178308	1.00[GIH][hapmap]
rs7183191	0.88[AMR][1000 genomes]
rs73399092	0.83[AMR][1000 genomes]
rs73399694	1.00[EUR][1000 genomes]
rs8030958	1.00[MEX][hapmap]
rs8031345	1.00[EUR][1000 genomes]
rs8032956	0.83[AMR][1000 genomes]
rs8034461	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8035532	0.83[AMR][1000 genomes]
rs8043232	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9806344	0.88[ASW][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs9806730	1.00[MEX][hapmap]

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	nsv1053462	chr15:41270067-41396094	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41258800-41348400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:41266800-41278400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:41266800-41280200	Strong transcription	Fetal Brain Female	brain
4	chr15:41266800-41280400	Strong transcription	Brain Substantia Nigra	brain
5	chr15:41266800-41281400	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr15:41266800-41283800	Strong transcription	A549	lung
7	chr15:41266800-41290000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:41266800-41298400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:41267000-41280600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:41267000-41280800	Strong transcription	Brain Germinal Matrix	brain
11	chr15:41267200-41294800	Strong transcription	Primary T cells from cord blood	blood
12	chr15:41267600-41280600	Strong transcription	Fetal Stomach	stomach
13	chr15:41267600-41294200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:41267600-41301200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:41267800-41280600	Strong transcription	Fetal Intestine Large	intestine
16	chr15:41267800-41280800	Strong transcription	Ovary	ovary
17	chr15:41267800-41281000	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr15:41267800-41281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr15:41267800-41282000	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr15:41267800-41284400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr15:41267800-41284600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:41267800-41290200	Strong transcription	NHEK	skin
23	chr15:41267800-41290800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:41267800-41294200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr15:41267800-41301400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr15:41268000-41279600	Strong transcription	Small Intestine	intestine
27	chr15:41268000-41280000	Strong transcription	Colonic Mucosa	Colon
28	chr15:41268000-41280200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr15:41268000-41280200	Strong transcription	Left Ventricle	heart
30	chr15:41268000-41280400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:41268000-41280400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:41268000-41280400	Strong transcription	Brain Anterior Caudate	brain
33	chr15:41268000-41280400	Strong transcription	Brain Cingulate Gyrus	brain
34	chr15:41268000-41280400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:41268000-41280600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr15:41268000-41280600	Strong transcription	Colon Smooth Muscle	Colon
37	chr15:41268000-41280800	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr15:41268000-41281600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:41268000-41282200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:41268000-41284000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr15:41268000-41284000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr15:41268000-41284800	Strong transcription	Fetal Intestine Small	intestine
43	chr15:41268000-41285000	Strong transcription	Dnd41	blood
44	chr15:41268000-41290200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:41268000-41292800	Strong transcription	Liver	Liver
46	chr15:41268000-41294800	Strong transcription	Fetal Thymus	thymus
47	chr15:41268000-41298000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:41268000-41302400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr15:41268200-41280200	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr15:41268200-41280400	Strong transcription	HMEC	breast

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