Variant report

Variant	rs11622636
Chromosome Location	chr14:55647840-55647841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55645788..55648762-chr14:55649731..55651963,3	K562	blood:
2	chr14:55641769..55647288-chr14:55647379..55651271,6	K562	blood:
3	chr14:55647150..55649562-chr14:55656835..55658830,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126787	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10129505	0.92[CEU][hapmap]
rs10131562	0.91[CEU][hapmap]
rs10131730	0.92[CEU][hapmap]
rs10134317	0.92[CEU][hapmap];0.97[TSI][hapmap]
rs10137409	0.95[ASN][1000 genomes]
rs10140857	0.93[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs10141396	0.92[CEU][hapmap];0.97[TSI][hapmap]
rs10146637	0.92[CEU][hapmap];0.97[TSI][hapmap]
rs10149435	0.94[ASN][1000 genomes]
rs10438127	0.89[ASN][1000 genomes]
rs1047556	0.91[ASN][1000 genomes]
rs11158034	0.92[CEU][hapmap]
rs11621351	0.95[ASN][1000 genomes]
rs11622740	0.86[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs11851870	0.90[JPT][hapmap]
rs15870	0.95[ASN][1000 genomes]
rs17253695	0.96[CEU][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17253702	0.80[JPT][hapmap]
rs17672058	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17672364	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17832359	0.95[ASN][1000 genomes]
rs1815316	0.95[ASN][1000 genomes]
rs1972221	0.92[CEU][hapmap]
rs2026633	0.92[CEU][hapmap]
rs2075603	0.93[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs2094436	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147970	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147972	0.91[ASN][1000 genomes]
rs2182207	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2274273	0.93[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap]
rs2296489	0.96[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2340936	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2880103	0.88[CEU][hapmap];0.97[TSI][hapmap]
rs3742566	0.90[ASN][1000 genomes]
rs3759667	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825613	0.93[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs3825614	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4040064	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4525413	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4580079	0.92[CEU][hapmap]
rs4644	0.93[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs55710823	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57033289	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57970196	0.91[ASN][1000 genomes]
rs58269011	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58553156	0.90[EUR][1000 genomes]
rs66476033	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66531545	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66782529	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66842809	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66871576	0.94[ASN][1000 genomes]
rs67008693	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67092614	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67098772	0.88[ASN][1000 genomes]
rs67215571	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67395212	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67416413	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67588230	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67756714	0.90[ASN][1000 genomes]
rs67805055	0.91[ASN][1000 genomes]
rs67958555	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68083077	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs68175860	0.82[AFR][1000 genomes]
rs7140872	0.95[ASN][1000 genomes]
rs7147247	0.92[CEU][hapmap];0.97[TSI][hapmap]
rs7150763	0.92[CEU][hapmap];0.97[TSI][hapmap]
rs7151581	0.92[CEU][hapmap];0.97[TSI][hapmap]
rs7152390	0.91[CEU][hapmap]
rs7155954	0.82[CEU][hapmap]
rs7158791	0.88[CEU][hapmap]
rs7159824	0.92[CEU][hapmap];0.97[TSI][hapmap]
rs72718804	0.95[ASN][1000 genomes]
rs7493394	0.94[ASN][1000 genomes]
rs8005117	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8005450	0.87[CEU][hapmap]
rs8014477	0.92[CEU][hapmap];0.97[TSI][hapmap]
rs8014540	0.92[CEU][hapmap]
rs8015211	0.92[CEU][hapmap];0.97[TSI][hapmap]
rs9919932	0.87[CEU][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	nsv1035158	chr14:55638386-55684228	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11622636	FBXO34	cis	cerebellum	SCAN
rs11622636	ATG14	cis	parietal	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55598600-55656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:55605200-55656000	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr14:55605400-55657000	Weak transcription	Fetal Kidney	kidney
4	chr14:55606600-55656000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:55607000-55656000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:55607200-55652200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:55607600-55651800	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr14:55607600-55655200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:55610600-55651600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:55610600-55655400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:55610600-55655600	Strong transcription	Dnd41	blood
12	chr14:55610800-55656000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:55611000-55656000	Weak transcription	Fetal Heart	heart
14	chr14:55611600-55656600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:55613400-55657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:55622600-55649000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:55623600-55657000	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:55629000-55650400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:55629200-55655600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:55629400-55650600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr14:55629400-55652000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr14:55630200-55656600	Weak transcription	Fetal Brain Female	brain
23	chr14:55631200-55649400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:55631200-55650400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:55632400-55656200	Weak transcription	HSMM	muscle
26	chr14:55634200-55655400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:55634400-55656200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:55637200-55655600	Strong transcription	Fetal Thymus	thymus
29	chr14:55637800-55649600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:55638200-55648800	Weak transcription	Fetal Lung	lung
31	chr14:55638200-55656200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:55638600-55657200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr14:55639800-55654200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:55641600-55648800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:55641600-55649000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:55642600-55649400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr14:55643800-55652000	Strong transcription	A549	lung
38	chr14:55644400-55648400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr14:55644800-55648400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:55644800-55652000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:55645200-55651800	Strong transcription	Hela-S3	cervix
42	chr14:55645800-55648400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:55645800-55649000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr14:55645800-55649200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:55645800-55656800	Weak transcription	Fetal Intestine Large	intestine
46	chr14:55645800-55657400	Weak transcription	Fetal Intestine Small	intestine
47	chr14:55646000-55648200	Strong transcription	K562	blood
48	chr14:55646000-55649800	Strong transcription	HepG2	liver
49	chr14:55646200-55649000	Strong transcription	NHEK	skin
50	chr14:55646600-55648400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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