Variant report

Variant	rs11622740
Chromosome Location	chr14:55617844-55617845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55568628..55573010-chr14:55614277..55618489,4	K562	blood:
2	chr14:55611177..55614078-chr14:55617214..55618748,2	MCF-7	breast:
3	chr14:55532973..55535677-chr14:55615169..55617966,2	MCF-7	breast:
4	chr14:55604463..55606860-chr14:55616784..55619184,2	K562	blood:
5	chr14:55604463..55607611-chr14:55616784..55619184,4	K562	blood:
6	chr14:55533388..55535335-chr14:55617293..55618856,2	K562	blood:

Variant related genes	Relation type
ENSG00000131981	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1009977	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1009978	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs10134800	0.87[EUR][1000 genomes]
rs10137409	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10140801	0.84[CEU][hapmap]
rs10140857	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10140869	0.89[CEU][hapmap]
rs10144418	0.88[CEU][hapmap]
rs10147667	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs10149435	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10438127	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1047556	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1109170	0.81[CEU][hapmap]
rs11621351	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11622636	0.86[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs11625001	0.81[CEU][hapmap]
rs11628437	0.81[CEU][hapmap]
rs11851169	0.81[CEU][hapmap]
rs11851870	0.81[JPT][hapmap]
rs15870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17128183	0.88[EUR][1000 genomes]
rs17253695	0.93[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs17253702	0.90[JPT][hapmap]
rs17672058	0.94[ASN][1000 genomes]
rs17672364	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs17740741	0.89[CEU][hapmap]
rs17741542	0.81[CEU][hapmap]
rs17832359	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1815316	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2075601	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs2075602	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs2075603	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2094102	0.97[EUR][1000 genomes]
rs2094436	0.94[ASN][1000 genomes]
rs2147970	0.94[ASN][1000 genomes]
rs2147972	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2182207	0.93[ASN][1000 genomes]
rs2274273	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2296489	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2340931	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs2340936	0.93[ASN][1000 genomes]
rs28429419	0.90[EUR][1000 genomes]
rs3742566	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3759667	0.86[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs3818451	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs3825613	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3825614	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs4040064	0.87[ASN][1000 genomes]
rs4525413	0.88[ASN][1000 genomes]
rs4644	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4652	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs55710823	0.92[ASN][1000 genomes]
rs56660630	0.85[EUR][1000 genomes]
rs57033289	0.96[ASN][1000 genomes]
rs57970196	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58269011	0.87[ASN][1000 genomes]
rs61508494	0.96[EUR][1000 genomes]
rs6573005	0.97[EUR][1000 genomes]
rs6573006	0.97[EUR][1000 genomes]
rs6573007	0.91[EUR][1000 genomes]
rs6573009	0.81[CEU][hapmap]
rs6573017	0.82[CEU][hapmap]
rs66476033	0.94[ASN][1000 genomes]
rs66531545	0.88[ASN][1000 genomes]
rs66782529	0.92[ASN][1000 genomes]
rs66842809	0.94[ASN][1000 genomes]
rs66871576	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67008693	0.84[ASN][1000 genomes]
rs67092614	0.94[ASN][1000 genomes]
rs67098772	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67215571	0.94[ASN][1000 genomes]
rs67395212	0.93[ASN][1000 genomes]
rs67416413	0.84[ASN][1000 genomes]
rs67588230	0.94[ASN][1000 genomes]
rs67756714	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67805055	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67958555	0.94[ASN][1000 genomes]
rs68083077	0.81[ASN][1000 genomes]
rs7140872	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7142704	0.95[EUR][1000 genomes]
rs7147106	0.84[EUR][1000 genomes]
rs7154889	0.82[CEU][hapmap]
rs7158768	0.81[CEU][hapmap]
rs7159808	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs7160110	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7160523	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs72718804	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7493394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004787	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs8005117	0.80[ASN][1000 genomes]
rs8007614	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs8007620	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs8007944	0.89[EUR][1000 genomes]
rs8009670	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs8011834	0.97[EUR][1000 genomes]
rs8013027	0.89[CEU][hapmap];0.97[EUR][1000 genomes]
rs8018110	0.87[EUR][1000 genomes]
rs8021583	0.82[CEU][hapmap]
rs8023197	0.82[CEU][hapmap]
rs9919926	0.85[CEU][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11622740	RP11-665C16.6	cis	Muscle Skeletal	GTEx

Chromatin state (count:80 , 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	chr14:55604000-55636400	Strong transcription	Fetal Thymus	thymus
3	chr14:55604400-55620800	Weak transcription	K562	blood
4	chr14:55604600-55627800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:55604800-55623200	Weak transcription	Brain Germinal Matrix	brain
6	chr14:55605000-55627600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:55605200-55656000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:55605400-55657000	Weak transcription	Fetal Kidney	kidney
9	chr14:55606400-55626600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr14:55606600-55656000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:55607000-55656000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:55607200-55652200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:55607600-55651800	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr14:55607600-55655200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:55610600-55621600	Strong transcription	GM12878-XiMat	blood
16	chr14:55610600-55651600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:55610600-55655400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:55610600-55655600	Strong transcription	Dnd41	blood
19	chr14:55610800-55656000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:55611000-55656000	Weak transcription	Fetal Heart	heart
21	chr14:55611200-55622800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:55611200-55643400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:55611400-55621800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:55611400-55630200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:55611600-55620000	Weak transcription	Fetal Stomach	stomach
26	chr14:55611600-55628400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:55611600-55630000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:55611600-55656600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:55611800-55620000	Weak transcription	Fetal Muscle Leg	muscle
30	chr14:55612000-55619000	Weak transcription	HSMMtube	muscle
31	chr14:55612000-55621000	Weak transcription	Fetal Lung	lung
32	chr14:55612000-55622000	Weak transcription	Small Intestine	intestine
33	chr14:55612000-55623200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:55612400-55637400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr14:55613000-55621800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr14:55613400-55619000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:55613400-55621800	Weak transcription	Left Ventricle	heart
38	chr14:55613400-55626200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:55613400-55639200	Weak transcription	Fetal Intestine Small	intestine
40	chr14:55613400-55657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:55613600-55618600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:55614000-55619000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:55614000-55619200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:55614000-55623200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr14:55614000-55623600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:55614000-55624400	Weak transcription	Fetal Intestine Large	intestine
47	chr14:55614200-55618600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:55614200-55622800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:55614200-55633600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr14:55614400-55620800	Weak transcription	Fetal Muscle Trunk	muscle

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