Variant report

Variant	rs12441409
Chromosome Location	chr15:83861757-83861758
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83854397..83857005-chr15:83860575..83862962,2	K562	blood:
2	chr15:83861740..83863529-chr15:83864105..83865780,2	K562	blood:
3	chr15:83861348..83866497-chr15:83870709..83877751,10	K562	blood:

Variant related genes	Relation type
ENSG00000166503	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs1045742	0.89[CEU][hapmap]
rs10520576	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1075619	1.00[CEU][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1112404	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11259905	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11259965	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11259967	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11259968	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11259969	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11259970	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11852287	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11852408	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11852446	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11852496	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11853498	1.00[CEU][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854888	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11855639	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11855722	1.00[ASN][1000 genomes]
rs11856164	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856806	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11857428	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11857641	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11858162	0.94[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858377	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11858468	0.94[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437558	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437858	0.83[EUR][1000 genomes]
rs12437901	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438398	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12438526	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438575	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438708	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439122	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439903	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12440265	0.94[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440386	0.89[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12440562	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441006	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441575	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441847	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12441907	1.00[ASN][1000 genomes]
rs12443109	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12443424	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12591855	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12593532	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12593638	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12595330	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17361375	0.94[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17507693	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17507763	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17508610	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509233	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17567151	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17567869	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17568298	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17568459	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1877024	1.00[ASN][1000 genomes]
rs1880532	0.83[EUR][1000 genomes]
rs1901544	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2034618	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3915139	1.00[ASN][1000 genomes]
rs41326445	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs4300612	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4408505	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4423388	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480763	0.88[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4547301	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4563011	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4572349	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55683536	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55691648	1.00[ASN][1000 genomes]
rs55756182	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55878453	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55893521	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55905779	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55932429	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55933526	1.00[ASN][1000 genomes]
rs56045305	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56052029	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56352317	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57219675	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57729044	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58006707	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58281154	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58396076	1.00[ASN][1000 genomes]
rs58847484	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59828448	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59896565	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60344060	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60819629	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61267530	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62010162	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010164	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010165	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010166	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010170	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010172	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010173	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010174	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010175	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010177	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010208	1.00[ASN][1000 genomes]
rs62010212	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62010214	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62010215	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62010220	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010247	1.00[ASN][1000 genomes]
rs62010248	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62010252	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010254	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010255	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62010258	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62011869	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62025861	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs62025914	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025915	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025919	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025921	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025923	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6603042	1.00[ASN][1000 genomes]
rs66619192	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66757932	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67933024	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164083	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7165114	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7165978	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7166078	1.00[ASN][1000 genomes]
rs7172590	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7179675	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7180692	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183171	1.00[ASN][1000 genomes]
rs72755992	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7495630	1.00[CEU][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7495911	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8027577	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031723	0.94[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033380	1.00[ASN][1000 genomes]
rs8037783	0.80[CEU][hapmap]
rs8038486	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8043224	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs965263	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965264	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9707895	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv534418	chr15:83770116-83960718	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83832200-83865600	Weak transcription	HSMM	muscle
2	chr15:83836000-83870200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:83837000-83873600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:83838000-83862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:83839200-83862400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr15:83840000-83867200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:83840000-83867200	Weak transcription	Fetal Brain Female	brain
8	chr15:83840200-83869200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:83840600-83863400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:83841200-83872600	Weak transcription	Brain Germinal Matrix	brain
11	chr15:83841800-83870400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:83845600-83862000	Weak transcription	Right Ventricle	heart
13	chr15:83847400-83873400	Weak transcription	Fetal Kidney	kidney
14	chr15:83848000-83862600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:83852400-83861800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:83853400-83862200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:83854200-83862600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr15:83854600-83864200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:83857000-83864200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:83858200-83863400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:83858800-83865600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr15:83860200-83863000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:83860400-83863800	Enhancers	HMEC	breast
24	chr15:83860600-83864000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:83860800-83862600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr15:83860800-83864000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:83861000-83862200	Weak transcription	Ovary	ovary
28	chr15:83861000-83862400	Enhancers	HUVEC	blood vessel
29	chr15:83861000-83873600	Weak transcription	Left Ventricle	heart
30	chr15:83861000-83873600	Weak transcription	Right Atrium	heart
31	chr15:83861200-83861800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:83861200-83861800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:83861200-83862000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr15:83861200-83863200	Enhancers	A549	lung
35	chr15:83861200-83863400	Enhancers	GM12878-XiMat	blood
36	chr15:83861200-83868400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:83861600-83861800	Enhancers	HSMMtube	muscle
38	chr15:83861600-83861800	Flanking Active TSS	NHEK	skin
39	chr15:83861600-83862000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:83861600-83862000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr15:83861600-83863000	Weak transcription	Fetal Heart	heart
42	chr15:83861600-83863600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr15:83861600-83863800	Enhancers	K562	blood
44	chr15:83861600-83864800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr15:83861600-83869200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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