Variant report

Variant	rs10234322
Chromosome Location	chr7:66387021-66387022
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66385651..66388919-chr7:66460114..66462403,3	MCF-7	breast:
2	chr7:66092683..66094985-chr7:66385486..66387762,2	K562	blood:
3	chr16:777428..780278-chr7:66386006..66387525,2	MCF-7	breast:
4	chr7:66386885..66388455-chr7:66393635..66395755,2	MCF-7	breast:
5	chr7:66204784..66206359-chr7:66385620..66388278,2	MCF-7	breast:
6	chr7:66309154..66310879-chr7:66385975..66387792,2	MCF-7	breast:
7	chr7:66308191..66311276-chr7:66384066..66387492,7	MCF-7	breast:
8	chr7:66385169..66388074-chr7:66392898..66397062,6	MCF-7	breast:
9	chr7:66384595..66388317-chr7:66459135..66463010,5	K562	blood:
10	chr7:66308297..66310076-chr7:66385373..66388075,2	K562	blood:
11	chr7:66378566..66381625-chr7:66385153..66387745,3	MCF-7	breast:
12	chr7:66118570..66121104-chr7:66386256..66388029,2	K562	blood:
13	chr7:66379191..66382749-chr7:66384574..66388642,5	K562	blood:
14	chr7:66385188..66388317-chr7:66459133..66463010,3	K562	blood:
15	chr7:66312126..66314998-chr7:66385416..66387725,2	MCF-7	breast:
16	chr7:66384799..66388848-chr7:66389441..66396879,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000126524	Chromatin interaction
ENSG00000198874	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000103253	Chromatin interaction
ENSG00000230583	Chromatin interaction
ENSG00000179131	Chromatin interaction
ENSG00000226824	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000272831	Chromatin interaction
ENSG00000232546	Chromatin interaction
ENSG00000243335	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10156059	0.88[EUR][1000 genomes]
rs10224189	0.86[EUR][1000 genomes]
rs10226191	0.86[EUR][1000 genomes]
rs10231411	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10232188	0.86[AFR][1000 genomes]
rs10234640	0.86[EUR][1000 genomes]
rs10234747	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10235334	0.89[AFR][1000 genomes]
rs10235423	0.84[AFR][1000 genomes]
rs10235638	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10241528	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10242870	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10245017	0.86[EUR][1000 genomes]
rs10247815	0.88[EUR][1000 genomes]
rs10250124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10250831	0.86[AFR][1000 genomes]
rs10258628	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10263993	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10264873	0.89[AFR][1000 genomes]
rs10265069	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10266792	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10267253	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10267834	0.84[EUR][1000 genomes]
rs10278343	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10279240	0.89[AFR][1000 genomes]
rs10280816	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10281090	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10282310	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10282522	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1064795	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12532829	0.91[AFR][1000 genomes]
rs12532843	0.89[AFR][1000 genomes]
rs12533298	0.89[AFR][1000 genomes]
rs12533724	0.89[AFR][1000 genomes]
rs12534188	0.86[AFR][1000 genomes]
rs12536003	0.94[AFR][1000 genomes]
rs13437994	0.86[EUR][1000 genomes]
rs13438432	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1589887	0.84[AFR][1000 genomes]
rs17138017	0.91[AFR][1000 genomes]
rs17680606	0.94[AFR][1000 genomes]
rs17747927	0.87[EUR][1000 genomes]
rs17748115	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2013707	0.81[EUR][1000 genomes]
rs28460006	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28472679	0.88[EUR][1000 genomes]
rs28501161	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs28524571	0.86[AFR][1000 genomes]
rs28560293	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28590087	0.89[AFR][1000 genomes]
rs28641990	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs28675035	0.88[EUR][1000 genomes]
rs3778907	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3778914	0.84[AFR][1000 genomes]
rs3778916	0.89[AFR][1000 genomes]
rs3800818	0.82[EUR][1000 genomes]
rs3823607	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3823609	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4617036	0.86[AFR][1000 genomes]
rs4718417	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57774708	0.87[EUR][1000 genomes]
rs57875851	0.86[EUR][1000 genomes]
rs59693594	0.86[EUR][1000 genomes]
rs60026498	0.87[EUR][1000 genomes]
rs60972148	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62465751	0.97[AFR][1000 genomes]
rs62465753	0.94[AFR][1000 genomes]
rs62466579	0.89[AFR][1000 genomes]
rs62466580	0.84[AFR][1000 genomes]
rs67408913	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6965680	0.81[EUR][1000 genomes]
rs6974601	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71526586	0.84[EUR][1000 genomes]
rs73139941	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73141980	0.86[EUR][1000 genomes]
rs73143921	0.87[EUR][1000 genomes]
rs73143998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73145924	0.86[EUR][1000 genomes]
rs73151646	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7455757	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7777631	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785755	0.84[AFR][1000 genomes]
rs7785883	0.85[EUR][1000 genomes]
rs7796977	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7809359	0.88[EUR][1000 genomes]
rs7809535	0.88[EUR][1000 genomes]
rs868960	0.84[EUR][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	esv3324611	chr7:66383817-66388015	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10234322	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs10234322	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66384800-66387400	Active TSS	NHDF-Ad	bronchial
2	chr7:66385000-66387200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr7:66385000-66388000	Active TSS	A549	lung
4	chr7:66385200-66387200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:66385200-66387200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:66385200-66387200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:66385200-66387200	Active TSS	Fetal Kidney	kidney
8	chr7:66385200-66387200	Active TSS	HMEC	breast
9	chr7:66385200-66387800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr7:66385400-66387200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:66385400-66387200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:66385400-66387200	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr7:66385400-66387200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:66385400-66387400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr7:66385400-66387400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:66385400-66387400	Active TSS	Psoas Muscle	Psoas
17	chr7:66385400-66387400	Active TSS	HSMMtube	muscle
18	chr7:66385400-66387600	Active TSS	Fetal Muscle Trunk	muscle
19	chr7:66385400-66387600	Active TSS	Thymus	Thymus
20	chr7:66385400-66388000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:66385400-66388200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr7:66385600-66387200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:66385600-66387200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:66385600-66387200	Active TSS	Muscle Satellite Cultured Cells	--
25	chr7:66385600-66387200	Active TSS	Brain Anterior Caudate	brain
26	chr7:66385600-66387200	Bivalent/Poised TSS	HepG2	liver
27	chr7:66385600-66387200	Active TSS	HSMM	muscle
28	chr7:66385600-66387200	Active TSS	HUVEC	blood vessel
29	chr7:66385600-66387400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr7:66385600-66387400	Active TSS	Colonic Mucosa	Colon
31	chr7:66385600-66387400	Active TSS	Right Atrium	heart
32	chr7:66385600-66387400	Active TSS	Small Intestine	intestine
33	chr7:66385600-66387600	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr7:66385600-66387600	Active TSS	Aorta	Aorta
35	chr7:66385600-66387600	Active TSS	Esophagus	oesophagus
36	chr7:66385600-66387600	Active TSS	Left Ventricle	heart
37	chr7:66385600-66387600	Active TSS	Lung	lung
38	chr7:66385600-66387600	Active TSS	Ovary	ovary
39	chr7:66385600-66387800	Active TSS	Fetal Intestine Small	intestine
40	chr7:66385600-66387800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr7:66385600-66387800	Active TSS	GM12878-XiMat	blood
42	chr7:66385800-66387200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:66385800-66387200	Active TSS	Fetal Stomach	stomach
44	chr7:66385800-66387200	Active TSS	Stomach Mucosa	stomach
45	chr7:66385800-66387200	Active TSS	Spleen	Spleen
46	chr7:66385800-66387400	Active TSS	Placenta Amnion	Placenta Amnion
47	chr7:66385800-66387400	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr7:66385800-66387600	Active TSS	Fetal Intestine Large	intestine
49	chr7:66386000-66387200	Active TSS	Primary B cells from peripheral blood	blood
50	chr7:66386000-66387200	Active TSS	Primary T cells from cord blood	blood

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