Variant report

Variant	rs212855
Chromosome Location	chr7:26727362-26727363
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10085721	0.86[ASN][1000 genomes]
rs10224133	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10227140	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10228105	0.93[AFR][1000 genomes]
rs10231161	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10232697	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10232770	0.92[EUR][1000 genomes]
rs10232778	0.93[EUR][1000 genomes]
rs10237921	0.84[ASN][1000 genomes]
rs10238253	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10239608	0.84[ASN][1000 genomes]
rs10241952	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10245162	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10245367	0.84[ASN][1000 genomes]
rs10246641	0.84[ASN][1000 genomes]
rs10247509	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10249824	0.82[ASN][1000 genomes]
rs10250223	0.86[ASN][1000 genomes]
rs10255249	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10256561	0.84[ASN][1000 genomes]
rs10256799	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10261915	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10263118	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10269731	0.86[ASN][1000 genomes]
rs10273468	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10276636	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1030644	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10807834	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10951145	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10951149	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1123157	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1123158	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11770043	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11772673	0.91[ASN][1000 genomes]
rs11773029	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11773050	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532339	0.84[ASN][1000 genomes]
rs12535078	0.84[ASN][1000 genomes]
rs12668948	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700754	0.80[EUR][1000 genomes]
rs12700755	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700758	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12700759	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12700760	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12700761	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13186	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13234201	0.91[ASN][1000 genomes]
rs13234336	0.91[ASN][1000 genomes]
rs1548478	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1548479	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1859101	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2015543	0.89[ASN][1000 genomes]
rs2017794	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2023819	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2023821	0.81[EUR][1000 genomes]
rs212840	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs212842	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs212844	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs212845	0.82[EUR][1000 genomes]
rs212846	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212847	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212849	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212851	0.82[EUR][1000 genomes]
rs212852	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs212853	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212854	0.82[EUR][1000 genomes]
rs212858	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237328	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282906	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299101	0.80[EUR][1000 genomes]
rs2299102	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2391359	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2391360	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28403911	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3801846	0.80[ASN][1000 genomes]
rs3801847	0.86[ASN][1000 genomes]
rs3801848	0.86[ASN][1000 genomes]
rs3801853	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3801854	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3801855	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3801860	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3801864	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3801866	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801867	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801868	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3801872	0.80[EUR][1000 genomes]
rs3823939	0.86[ASN][1000 genomes]
rs4345466	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4512299	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4573150	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4719879	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4722628	0.82[EUR][1000 genomes]
rs4722631	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4722633	0.89[ASN][1000 genomes]
rs4722634	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5012512	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55836768	0.84[ASN][1000 genomes]
rs55904994	0.84[ASN][1000 genomes]
rs56359409	0.84[ASN][1000 genomes]
rs58988613	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6461961	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461964	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6461965	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6461971	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6461973	0.84[ASN][1000 genomes]
rs6461974	0.80[ASN][1000 genomes]
rs6461975	0.83[ASN][1000 genomes]
rs6943568	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6943623	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6944529	0.84[ASN][1000 genomes]
rs6965167	0.84[ASN][1000 genomes]
rs6970591	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6973237	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6978504	0.86[ASN][1000 genomes]
rs73065526	0.84[ASN][1000 genomes]
rs744611	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs744612	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7777316	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7777744	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7779604	0.84[ASN][1000 genomes]
rs7779843	0.84[ASN][1000 genomes]
rs7784206	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7784548	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7788165	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793663	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7794399	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7798696	0.84[ASN][1000 genomes]
rs7799888	0.84[ASN][1000 genomes]
rs7802771	0.81[EUR][1000 genomes]
rs7802852	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7807640	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7810109	0.91[ASN][1000 genomes]
rs7810127	0.91[ASN][1000 genomes]
rs7811764	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs891874	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs891875	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs891876	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs934410	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9648018	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9648020	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9648021	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9648330	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9648331	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9770851	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs989250	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1020378	chr7:26679880-26733872	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv5672	chr7:26711462-26757891	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs212855	SKAP2	cis	Whole Blood	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26705000-26759600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:26715000-26731200	Weak transcription	Lung	lung
3	chr7:26716400-26728200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr7:26716800-26729200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:26720800-26728600	Weak transcription	Spleen	Spleen
6	chr7:26722200-26728800	Weak transcription	Small Intestine	intestine
7	chr7:26722600-26728600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:26723000-26728000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr7:26724200-26728200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:26724400-26728000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:26724400-26742000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr7:26725000-26728800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:26725400-26728600	Weak transcription	Colonic Mucosa	Colon
14	chr7:26725600-26728000	Weak transcription	Primary B cells from cord blood	blood
15	chr7:26725600-26728200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:26725600-26728600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:26725600-26732200	Enhancers	Primary hematopoietic stem cells	blood
18	chr7:26725600-26732400	Enhancers	HUVEC	blood vessel
19	chr7:26726000-26730400	Enhancers	Fetal Intestine Large	intestine
20	chr7:26726000-26730600	Enhancers	HepG2	liver
21	chr7:26726200-26727400	Enhancers	Fetal Kidney	kidney
22	chr7:26726200-26727600	Enhancers	Fetal Intestine Small	intestine
23	chr7:26726200-26728200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:26726400-26727600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr7:26726400-26729800	Enhancers	A549	lung
26	chr7:26726600-26728000	Weak transcription	K562	blood
27	chr7:26726600-26728200	Weak transcription	Liver	Liver
28	chr7:26726600-26728400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:26726600-26729400	Weak transcription	NHEK	skin
30	chr7:26726600-26731600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:26726600-26731800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:26726600-26734200	Weak transcription	NHDF-Ad	bronchial
33	chr7:26726800-26728200	Enhancers	GM12878-XiMat	blood
34	chr7:26726800-26728800	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:26726800-26729200	Weak transcription	HMEC	breast
36	chr7:26727000-26727800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:26727000-26728000	Enhancers	Fetal Lung	lung
38	chr7:26727000-26728200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:26727000-26728600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:26727000-26728600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:26727000-26728800	Weak transcription	Fetal Stomach	stomach
42	chr7:26727000-26728800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:26727000-26730400	Enhancers	Adipose Nuclei	Adipose
44	chr7:26727000-26730600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:26727000-26731200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:26727000-26731200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:26727000-26731400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:26727000-26731400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:26727000-26731400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:26727000-26731600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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