Variant report

Variant	rs11848506
Chromosome Location	chr14:35642274-35642275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35634398..35636898-chr14:35641045..35642555,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1040839	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10498331	1.00[ASN][1000 genomes]
rs11844096	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844257	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846137	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846194	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846536	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847511	1.00[ASN][1000 genomes]
rs11847515	1.00[ASN][1000 genomes]
rs11847715	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848312	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848999	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431902	1.00[ASN][1000 genomes]
rs12434128	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435977	1.00[ASN][1000 genomes]
rs12436274	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436663	1.00[ASN][1000 genomes]
rs12436672	1.00[ASN][1000 genomes]
rs12437331	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17103184	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415270	1.00[ASN][1000 genomes]
rs2415271	1.00[ASN][1000 genomes]
rs2415272	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34384582	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35239200	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981269	1.00[ASN][1000 genomes]
rs4981271	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982245	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55758852	1.00[ASN][1000 genomes]
rs55911753	1.00[ASN][1000 genomes]
rs56658608	1.00[ASN][1000 genomes]
rs56994597	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59275448	1.00[ASN][1000 genomes]
rs59482644	1.00[ASN][1000 genomes]
rs60871552	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571697	1.00[ASN][1000 genomes]
rs7140254	1.00[ASN][1000 genomes]
rs7141714	1.00[ASN][1000 genomes]
rs7141992	1.00[ASN][1000 genomes]
rs7142246	1.00[ASN][1000 genomes]
rs7144806	1.00[ASN][1000 genomes]
rs7144845	1.00[ASN][1000 genomes]
rs7149841	1.00[ASN][1000 genomes]
rs7150725	1.00[ASN][1000 genomes]
rs7151250	1.00[ASN][1000 genomes]
rs73234501	1.00[ASN][1000 genomes]
rs73236907	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236912	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236913	1.00[ASN][1000 genomes]
rs73236918	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236919	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236938	1.00[ASN][1000 genomes]
rs73236939	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236946	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236950	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236968	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236982	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236983	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236995	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239016	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239022	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239081	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239096	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240724	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74043851	1.00[ASN][1000 genomes]
rs7492529	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9743524	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv564264	chr14:35482797-35732369	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1046992	chr14:35527239-35724227	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv1051274	chr14:35529529-35724227	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv1048823	chr14:35537281-35724892	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv542032	chr14:35537281-35724892	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv1040540	chr14:35537481-35724753	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv542033	chr14:35537481-35724753	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv1042625	chr14:35546094-35680358	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	nsv1050123	chr14:35546114-35724892	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv542034	chr14:35546114-35724892	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv1043692	chr14:35548276-35720016	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
18	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
19	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
20	nsv1040300	chr14:35602956-35643888	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
21	nsv1046680	chr14:35608347-35665374	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35593000-35660400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:35603200-35663400	Weak transcription	Fetal Lung	lung
3	chr14:35604200-35651400	Weak transcription	Esophagus	oesophagus
4	chr14:35604400-35651800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:35604400-35660200	Weak transcription	Aorta	Aorta
6	chr14:35604600-35667400	Weak transcription	Spleen	Spleen
7	chr14:35607400-35642800	Weak transcription	Left Ventricle	heart
8	chr14:35607400-35662000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:35607600-35661200	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:35612000-35659800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr14:35622000-35645600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:35625000-35645200	Weak transcription	Gastric	stomach
13	chr14:35625400-35644600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr14:35625600-35643000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:35625600-35644600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:35625600-35645200	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:35625600-35650000	Weak transcription	Psoas Muscle	Psoas
18	chr14:35625600-35662200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:35625600-35662600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:35625800-35643000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:35626200-35650800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:35626400-35651200	Weak transcription	Ovary	ovary
23	chr14:35626400-35658000	Weak transcription	Fetal Brain Female	brain
24	chr14:35627000-35645400	Weak transcription	HSMMtube	muscle
25	chr14:35628600-35670200	Weak transcription	Thymus	Thymus
26	chr14:35628600-35672000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:35629000-35660600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:35629200-35643200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr14:35629600-35642600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:35629600-35642600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr14:35629600-35650600	Weak transcription	Fetal Intestine Small	intestine
32	chr14:35629600-35666000	Weak transcription	HSMM	muscle
33	chr14:35630000-35643000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:35630000-35665800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr14:35630200-35642600	Weak transcription	Dnd41	blood
36	chr14:35630200-35644200	Weak transcription	Osteobl	bone
37	chr14:35630200-35649400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr14:35630200-35665000	Weak transcription	Fetal Kidney	kidney
39	chr14:35630400-35648600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:35630600-35665600	Weak transcription	Hela-S3	cervix
41	chr14:35630600-35665600	Weak transcription	HMEC	breast
42	chr14:35630600-35670200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:35630800-35643000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:35630800-35665600	Weak transcription	Small Intestine	intestine
45	chr14:35630800-35665600	Weak transcription	HUVEC	blood vessel
46	chr14:35630800-35665800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:35631600-35642800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:35631800-35645400	Weak transcription	A549	lung
49	chr14:35632200-35649400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:35633800-35651800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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