Variant report

Variant	rs212856
Chromosome Location	chr7:26729205-26729206
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	chr7:26723927..26726163-chr7:26727475..26729887,2	K562	blood:

Extended variants
information (count: 191 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:184)

rs_ID	r²[population]
rs10215738	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10225700	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10225924	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10227231	0.86[ASN][1000 genomes]
rs10227529	0.86[ASN][1000 genomes]
rs10227673	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10227898	0.93[ASN][1000 genomes]
rs10229837	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10236221	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10242572	0.86[ASN][1000 genomes]
rs10244986	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10248500	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10251839	0.86[ASN][1000 genomes]
rs10256250	0.86[ASN][1000 genomes]
rs10262414	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10267950	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10270187	0.86[ASN][1000 genomes]
rs10272190	0.86[ASN][1000 genomes]
rs10272301	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10272303	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10272457	0.86[ASN][1000 genomes]
rs10272603	0.86[ASN][1000 genomes]
rs10275896	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10276471	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10281261	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10486478	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10486483	0.86[ASN][1000 genomes]
rs10486485	0.84[ASN][1000 genomes]
rs12333525	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12532199	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12532395	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12532796	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12534899	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12534921	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12535784	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12536145	0.86[ASN][1000 genomes]
rs12536560	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12537014	0.81[ASN][1000 genomes]
rs12537323	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12539719	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12540045	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12540388	0.84[ASN][1000 genomes]
rs12540508	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13229947	0.90[ASN][1000 genomes]
rs1327988	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1327989	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13438513	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13438514	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1468203	0.90[ASN][1000 genomes]
rs1548481	0.93[ASN][1000 genomes]
rs17315334	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17315775	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17315929	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17323934	0.84[ASN][1000 genomes]
rs17375272	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17376018	0.86[ASN][1000 genomes]
rs1967332	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1982995	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2015649	0.87[ASN][1000 genomes]
rs2030136	0.84[ASN][1000 genomes]
rs2031811	0.86[ASN][1000 genomes]
rs212838	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs212848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189016	0.90[ASN][1000 genomes]
rs2189017	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2189019	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2391362	0.84[ASN][1000 genomes]
rs28404962	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28550029	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28617235	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28733208	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28806787	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28816386	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28883078	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3213853	0.86[ASN][1000 genomes]
rs3757654	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3801803	0.84[ASN][1000 genomes]
rs3801805	0.86[ASN][1000 genomes]
rs3801807	0.86[ASN][1000 genomes]
rs3801808	0.86[ASN][1000 genomes]
rs3801809	0.86[ASN][1000 genomes]
rs3801810	0.83[ASN][1000 genomes]
rs3801812	0.86[ASN][1000 genomes]
rs3801813	0.86[ASN][1000 genomes]
rs3801814	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801815	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801816	0.84[ASN][1000 genomes]
rs3801819	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801820	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3801821	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3801822	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3801823	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3801825	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801826	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801827	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801828	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801829	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801830	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801831	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801832	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3801833	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3801834	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3801836	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3801837	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3801840	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801842	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801843	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801844	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801846	0.81[EUR][1000 genomes]
rs3801850	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3823928	0.86[ASN][1000 genomes]
rs3823929	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3823930	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3823931	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3823932	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3823933	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3823934	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3823936	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3823938	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3934268	0.86[ASN][1000 genomes]
rs4719877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719882	0.86[ASN][1000 genomes]
rs4722630	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722641	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4722643	0.86[ASN][1000 genomes]
rs4722644	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4722647	0.86[ASN][1000 genomes]
rs55739485	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56154570	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57135974	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57623217	0.86[ASN][1000 genomes]
rs58760954	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59254259	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61354389	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6461962	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6461963	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461979	0.86[ASN][1000 genomes]
rs6461980	0.86[ASN][1000 genomes]
rs6948584	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6948657	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6951065	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956088	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6964094	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6964817	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971397	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6972378	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs727449	0.90[ASN][1000 genomes]
rs727450	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73061894	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73065504	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73065517	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73065521	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73067435	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73067437	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73067443	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73067456	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73067472	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73067475	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73067476	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73067479	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73069507	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73069510	0.86[ASN][1000 genomes]
rs73069533	0.86[ASN][1000 genomes]
rs73069539	0.84[ASN][1000 genomes]
rs73069540	0.84[ASN][1000 genomes]
rs73069541	0.84[ASN][1000 genomes]
rs7457076	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs763616	0.90[ASN][1000 genomes]
rs7782621	0.87[ASN][1000 genomes]
rs7785689	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7785711	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7785798	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7785832	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7785918	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7791513	0.86[ASN][1000 genomes]
rs7795074	0.93[ASN][1000 genomes]
rs7802688	0.88[ASN][1000 genomes]
rs7804356	0.86[ASN][1000 genomes]
rs7804620	0.86[ASN][1000 genomes]
rs7805766	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7805778	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9648019	0.86[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
rs212856	SKAP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:53 , 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	chr7:26724400-26742000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:26725600-26732200	Enhancers	Primary hematopoietic stem cells	blood
5	chr7:26725600-26732400	Enhancers	HUVEC	blood vessel
6	chr7:26726000-26730400	Enhancers	Fetal Intestine Large	intestine
7	chr7:26726000-26730600	Enhancers	HepG2	liver
8	chr7:26726400-26729800	Enhancers	A549	lung
9	chr7:26726600-26729400	Weak transcription	NHEK	skin
10	chr7:26726600-26731600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:26726600-26731800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:26726600-26734200	Weak transcription	NHDF-Ad	bronchial
13	chr7:26727000-26730400	Enhancers	Adipose Nuclei	Adipose
14	chr7:26727000-26730600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:26727000-26731200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:26727000-26731200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:26727000-26731400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:26727000-26731400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:26727000-26731400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:26727000-26731600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:26727200-26729800	Weak transcription	NHLF	lung
22	chr7:26727200-26731200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:26727200-26735600	Weak transcription	Esophagus	oesophagus
24	chr7:26727200-26739200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:26727800-26730000	Enhancers	Fetal Kidney	kidney
26	chr7:26728000-26729600	Enhancers	K562	blood
27	chr7:26728000-26730400	Enhancers	Fetal Intestine Small	intestine
28	chr7:26728200-26730000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:26728200-26730000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr7:26728400-26729600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr7:26728400-26730000	Bivalent Enhancer	Fetal Lung	lung
32	chr7:26728600-26729400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:26728600-26729400	Enhancers	Psoas Muscle	Psoas
34	chr7:26728600-26729600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:26728600-26729600	Enhancers	GM12878-XiMat	blood
36	chr7:26728600-26729800	Enhancers	Duodenum Mucosa	Duodenum
37	chr7:26728600-26730000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr7:26728600-26734600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr7:26728800-26729400	Enhancers	Fetal Muscle Leg	muscle
40	chr7:26728800-26729400	Enhancers	Ovary	ovary
41	chr7:26728800-26729800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr7:26728800-26730000	Enhancers	Small Intestine	intestine
43	chr7:26729000-26729600	Weak transcription	Fetal Stomach	stomach
44	chr7:26729000-26729800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr7:26729000-26730600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr7:26729000-26731400	Weak transcription	Spleen	Spleen
47	chr7:26729000-26756400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:26729200-26729600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:26729200-26729600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr7:26729200-26729800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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