Variant report

Variant	rs11207970
Chromosome Location	chr1:62915473-62915474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62915302..62917665-chr1:62927011..62928791,2	K562	blood:

Extended variants
information (count: 200 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:199)

rs_ID	r²[population]
rs1002687	0.92[EUR][1000 genomes]
rs10157265	0.88[EUR][1000 genomes]
rs10158897	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159255	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10493322	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10789112	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10789113	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10789117	0.88[EUR][1000 genomes]
rs10789118	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10789119	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10789120	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10889330	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10889331	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10889332	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10889333	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10889334	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10889335	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10889337	0.92[EUR][1000 genomes]
rs10889338	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10889339	0.98[EUR][1000 genomes]
rs10889340	0.98[EUR][1000 genomes]
rs10889342	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10889343	0.90[EUR][1000 genomes]
rs10889344	0.90[EUR][1000 genomes]
rs10889347	0.88[EUR][1000 genomes]
rs10889348	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10889349	0.88[EUR][1000 genomes]
rs10889350	0.88[EUR][1000 genomes]
rs10889352	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10889353	0.86[EUR][1000 genomes]
rs10889354	0.86[EUR][1000 genomes]
rs11207969	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11207972	0.93[EUR][1000 genomes]
rs11207974	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11207976	0.98[EUR][1000 genomes]
rs11207977	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11207979	0.98[EUR][1000 genomes]
rs11207980	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11207981	0.98[EUR][1000 genomes]
rs11207982	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11207983	0.98[EUR][1000 genomes]
rs11207984	0.98[EUR][1000 genomes]
rs11207985	0.98[EUR][1000 genomes]
rs11207986	0.98[EUR][1000 genomes]
rs11207990	0.90[EUR][1000 genomes]
rs11207992	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207995	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207996	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207997	0.88[EUR][1000 genomes]
rs11207999	0.87[EUR][1000 genomes]
rs11208000	0.88[EUR][1000 genomes]
rs11208001	0.85[EUR][1000 genomes]
rs11208004	0.81[EUR][1000 genomes]
rs11485618	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11577840	0.96[EUR][1000 genomes]
rs11588261	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1167996	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1167998	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1168001	0.94[EUR][1000 genomes]
rs1168002	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1168003	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1168009	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1168010	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1168013	0.98[EUR][1000 genomes]
rs1168015	0.96[EUR][1000 genomes]
rs1168017	0.98[EUR][1000 genomes]
rs1168018	0.98[EUR][1000 genomes]
rs1168020	0.98[EUR][1000 genomes]
rs1168021	0.98[EUR][1000 genomes]
rs1168022	0.96[EUR][1000 genomes]
rs1168023	0.96[EUR][1000 genomes]
rs1168026	0.91[EUR][1000 genomes]
rs1168027	0.98[EUR][1000 genomes]
rs1168028	0.92[EUR][1000 genomes]
rs1168029	0.92[EUR][1000 genomes]
rs1168030	0.92[EUR][1000 genomes]
rs1168031	0.92[EUR][1000 genomes]
rs1168032	0.92[EUR][1000 genomes]
rs1168034	0.92[EUR][1000 genomes]
rs1168036	0.98[EUR][1000 genomes]
rs1168040	0.87[EUR][1000 genomes]
rs1168042	0.96[EUR][1000 genomes]
rs1168044	0.98[EUR][1000 genomes]
rs1168045	0.98[EUR][1000 genomes]
rs1168046	0.98[EUR][1000 genomes]
rs1168047	0.98[EUR][1000 genomes]
rs1168050	0.98[EUR][1000 genomes]
rs1168085	0.86[EUR][1000 genomes]
rs1168086	0.86[EUR][1000 genomes]
rs1168089	0.86[EUR][1000 genomes]
rs1168093	0.85[EUR][1000 genomes]
rs1168097	0.86[EUR][1000 genomes]
rs1168098	0.86[EUR][1000 genomes]
rs1168099	0.86[EUR][1000 genomes]
rs1168102	0.86[EUR][1000 genomes]
rs1168103	0.86[EUR][1000 genomes]
rs1168124	0.85[EUR][1000 genomes]
rs1168132	0.82[EUR][1000 genomes]
rs1177541	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1179765	0.98[EUR][1000 genomes]
rs1183260	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1184547	0.98[EUR][1000 genomes]
rs1184865	0.92[EUR][1000 genomes]
rs12023489	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12025800	0.88[EUR][1000 genomes]
rs12029068	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12037659	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038768	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12039115	0.81[ASN][1000 genomes]
rs12042319	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12043877	0.89[ASN][1000 genomes]
rs12047226	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12062275	0.98[EUR][1000 genomes]
rs12074528	0.98[EUR][1000 genomes]
rs12090886	0.92[EUR][1000 genomes]
rs12116574	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12124284	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12239736	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12239737	0.82[EUR][1000 genomes]
rs12403207	0.98[EUR][1000 genomes]
rs1305520	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1305521	0.99[EUR][1000 genomes]
rs1472257	0.90[EUR][1000 genomes]
rs1570694	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1627591	0.98[EUR][1000 genomes]
rs1629122	0.89[EUR][1000 genomes]
rs1690755	0.92[EUR][1000 genomes]
rs1690761	0.99[EUR][1000 genomes]
rs1690766	0.96[EUR][1000 genomes]
rs1748195	0.89[EUR][1000 genomes]
rs1748197	0.88[EUR][1000 genomes]
rs1748199	0.88[EUR][1000 genomes]
rs1748200	0.89[EUR][1000 genomes]
rs1748201	0.89[EUR][1000 genomes]
rs1781195	0.98[EUR][1000 genomes]
rs1781212	0.98[EUR][1000 genomes]
rs1979722	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2029763	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2131925	0.90[EUR][1000 genomes]
rs2131926	0.90[EUR][1000 genomes]
rs2366636	0.88[EUR][1000 genomes]
rs2366638	0.88[EUR][1000 genomes]
rs2479464	0.86[EUR][1000 genomes]
rs2489835	0.95[EUR][1000 genomes]
rs34152715	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3850634	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3913007	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4329540	0.90[EUR][1000 genomes]
rs4350231	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4495740	0.86[EUR][1000 genomes]
rs4587594	0.86[EUR][1000 genomes]
rs4915838	0.93[EUR][1000 genomes]
rs4915840	0.98[EUR][1000 genomes]
rs583609	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs597076	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs597078	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs597470	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs598253	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61471917	0.88[EUR][1000 genomes]
rs61775910	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs624660	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs626787	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs630144	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs631106	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs634341	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs636497	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs636523	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs637723	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs638305	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs641540	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs642845	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs656297	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6587976	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6587980	0.88[EUR][1000 genomes]
rs659656	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6675401	0.88[EUR][1000 genomes]
rs6678483	0.88[EUR][1000 genomes]
rs6690733	0.88[EUR][1000 genomes]
rs6693353	0.86[EUR][1000 genomes]
rs6696502	0.90[EUR][1000 genomes]
rs746735	0.86[EUR][1000 genomes]
rs7519785	0.89[EUR][1000 genomes]
rs7520810	0.88[EUR][1000 genomes]
rs7527004	0.90[EUR][1000 genomes]
rs7531579	0.81[EUR][1000 genomes]
rs7534572	0.98[EUR][1000 genomes]
rs7539035	0.88[EUR][1000 genomes]
rs7547965	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7548877	0.98[EUR][1000 genomes]
rs7555577	0.85[EUR][1000 genomes]
rs783291	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9436221	0.92[EUR][1000 genomes]
rs9436222	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9436223	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9436661	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs993013	0.87[EUR][1000 genomes]
rs995000	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs998403	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9988450	0.90[AMR][1000 genomes];0.97[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	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11207970	DOCK7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62904200-62917800	Weak transcription	Pancreas	Pancrea
2	chr1:62904200-62931400	Weak transcription	HSMMtube	muscle
3	chr1:62904200-62940000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:62904600-62916400	Weak transcription	Stomach Mucosa	stomach
5	chr1:62904800-62931600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:62905400-62926800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:62905600-62923200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:62905800-62919400	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr1:62906000-62922200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:62906000-62923400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:62906000-62925200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:62906200-62921200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:62906200-62923200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:62906200-62923400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:62906400-62918800	Strong transcription	K562	blood
16	chr1:62906400-62919000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:62906400-62923400	Strong transcription	Placenta	Placenta
18	chr1:62906600-62922600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:62906800-62919000	Strong transcription	Hela-S3	cervix
20	chr1:62906800-62920000	Strong transcription	Fetal Thymus	thymus
21	chr1:62907000-62917400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:62907000-62918400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:62907000-62918600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:62907000-62918600	Strong transcription	Fetal Lung	lung
25	chr1:62907000-62918600	Strong transcription	HSMM	muscle
26	chr1:62907000-62918800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr1:62907000-62919400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:62907000-62919800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:62907000-62919800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:62907000-62923400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:62907000-62923600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:62907000-62928000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:62907200-62916000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:62907200-62916600	Strong transcription	Brain Anterior Caudate	brain
35	chr1:62907200-62918600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:62907200-62920000	Strong transcription	Fetal Intestine Large	intestine
37	chr1:62907200-62921800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr1:62907200-62923600	Strong transcription	Liver	Liver
39	chr1:62907200-62924000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:62907200-62924200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr1:62907400-62915800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:62907400-62916000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:62907400-62916200	Strong transcription	Fetal Muscle Leg	muscle
44	chr1:62907400-62917400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:62907400-62918800	Strong transcription	Adipose Nuclei	Adipose
46	chr1:62907400-62919200	Strong transcription	HepG2	liver
47	chr1:62907400-62919800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:62907400-62920200	Strong transcription	Brain Germinal Matrix	brain
49	chr1:62907400-62920200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr1:62907400-62924000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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