Variant report

Variant	rs1168128
Chromosome Location	chr1:63135846-63135847
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:63134723..63136885-chr1:63143027..63144543,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10157265	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10159255	0.86[EUR][1000 genomes]
rs10789117	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10789118	0.89[EUR][1000 genomes]
rs10789119	0.89[EUR][1000 genomes]
rs10789120	0.85[EUR][1000 genomes]
rs10889343	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10889344	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10889347	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10889348	0.86[EUR][1000 genomes]
rs10889349	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10889350	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10889352	0.89[EUR][1000 genomes]
rs10889353	0.91[EUR][1000 genomes]
rs10889354	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10889356	0.82[EUR][1000 genomes]
rs10889357	0.82[EUR][1000 genomes]
rs11207990	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11207992	0.86[EUR][1000 genomes]
rs11207995	0.88[EUR][1000 genomes]
rs11207996	0.88[EUR][1000 genomes]
rs11207997	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11207999	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11208000	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11208001	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11208004	0.84[EUR][1000 genomes]
rs11485618	0.89[EUR][1000 genomes]
rs1168085	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1168086	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1168089	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1168093	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1168097	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1168098	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1168099	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1168102	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1168103	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1168107	0.83[AMR][1000 genomes]
rs1168114	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1168124	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1168132	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12025800	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12038768	0.86[EUR][1000 genomes]
rs12042319	0.88[EUR][1000 genomes]
rs12047226	0.88[EUR][1000 genomes]
rs12116574	0.86[EUR][1000 genomes]
rs12136083	0.82[EUR][1000 genomes]
rs12239736	0.84[EUR][1000 genomes]
rs12239737	0.82[EUR][1000 genomes]
rs1472257	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1570694	0.89[EUR][1000 genomes]
rs1629122	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1748195	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1748197	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1748199	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1748200	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1748201	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2131925	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2131926	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2366636	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2366638	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2479464	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28399032	0.85[EUR][1000 genomes]
rs34152715	0.86[EUR][1000 genomes]
rs3850634	0.88[EUR][1000 genomes]
rs4329540	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4344355	0.80[EUR][1000 genomes]
rs4459145	0.83[EUR][1000 genomes]
rs4495740	0.91[EUR][1000 genomes]
rs4587594	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61471917	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6587980	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6657050	0.86[AMR][1000 genomes]
rs6675401	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6678483	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6690733	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6693353	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6696502	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs746735	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7519785	0.88[EUR][1000 genomes]
rs7520810	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7531579	0.86[EUR][1000 genomes]
rs7539035	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7555577	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs993013	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs995000	0.89[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	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1168128	DOCK7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63099600-63137000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:63107400-63151200	Weak transcription	Pancreas	Pancrea
3	chr1:63107600-63147800	Weak transcription	NHEK	skin
4	chr1:63108800-63151200	Weak transcription	Fetal Stomach	stomach
5	chr1:63109000-63147800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:63109200-63143000	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:63109200-63150200	Weak transcription	Fetal Brain Male	brain
8	chr1:63110200-63140800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:63111400-63150200	Weak transcription	Fetal Lung	lung
10	chr1:63112400-63137600	Weak transcription	Fetal Intestine Large	intestine
11	chr1:63112400-63140800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:63112400-63142400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:63112400-63142800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:63112400-63152400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:63113400-63142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:63113400-63142400	Weak transcription	Osteobl	bone
17	chr1:63113600-63151000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:63113600-63152800	Weak transcription	Primary B cells from cord blood	blood
19	chr1:63114000-63143000	Weak transcription	Aorta	Aorta
20	chr1:63118000-63150800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:63118200-63147600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:63119000-63148000	Weak transcription	Fetal Brain Female	brain
23	chr1:63119800-63138800	Weak transcription	Fetal Kidney	kidney
24	chr1:63119800-63142400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:63119800-63142400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:63119800-63150200	Weak transcription	Adipose Nuclei	Adipose
27	chr1:63120400-63136600	Weak transcription	Dnd41	blood
28	chr1:63123000-63140800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:63123000-63141200	Weak transcription	Lung	lung
30	chr1:63123000-63147800	Weak transcription	Gastric	stomach
31	chr1:63126800-63147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:63127000-63138800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:63127000-63142200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:63127400-63142400	Weak transcription	HSMM	muscle
35	chr1:63127800-63142400	Weak transcription	NH-A	brain
36	chr1:63128600-63137000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:63128600-63142600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:63128800-63139000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:63128800-63147400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:63128800-63150800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:63131200-63149200	Weak transcription	Fetal Intestine Small	intestine
42	chr1:63132800-63137000	Weak transcription	HepG2	liver
43	chr1:63133000-63140800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:63133000-63141000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:63133000-63147600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:63134200-63143000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:63135000-63142800	Weak transcription	Fetal Heart	heart
48	chr1:63135200-63136800	Weak transcription	Stomach Mucosa	stomach
49	chr1:63135200-63138400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:63135200-63139000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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