Variant report

Variant	rs2986321
Chromosome Location	chr13:111286318-111286319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111286262..111288544-chr13:111335123..111337975,2	K562	blood:
2	chr13:111286170..111289373-chr13:111362877..111366767,3	K562	blood:
3	chr13:111284778..111286525-chr13:111522479..111525295,2	K562	blood:
4	chr13:111285638..111287730-chr13:111364678..111367940,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134905	Chromatin interaction
ENSG00000153487	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2765346	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2766501	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs330546	0.80[AFR][1000 genomes]
rs330550	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs330554	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs330556	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs330558	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs330563	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs330564	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs330566	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs381033	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs392660	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs403908	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs424649	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs441805	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61970485	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7394	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7998306	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
4	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv901010	chr13:111165390-111286592	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1053922	chr13:111167764-111330876	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription 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	25 gene(s)	inside rSNPs	diseases
8	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
9	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
11	nsv901012	chr13:111220842-111340342	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
13	nsv563123	chr13:111237260-111292044	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv563124	chr13:111261267-111300943	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
15	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription 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	240 gene(s)	inside rSNPs	diseases
16	nsv456120	chr13:111280002-111309617	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	n/a
17	nsv563125	chr13:111280002-111309617	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	n/a
18	nsv1042232	chr13:111282123-111348475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2986321	CARKD	cis	Muscle Skeletal	GTEx
rs2986321	CARKD	cis	Whole Blood	GTEx
rs2986321	AL139385.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111269000-111287000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:111269400-111286600	Weak transcription	Fetal Brain Male	brain
3	chr13:111269400-111287200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr13:111270800-111296800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:111271200-111287000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:111275600-111287400	Weak transcription	K562	blood
7	chr13:111277800-111286800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr13:111278000-111286600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:111278000-111286600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr13:111278200-111286800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr13:111278400-111287200	Weak transcription	Small Intestine	intestine
12	chr13:111278600-111286800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:111279600-111286800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr13:111279600-111286800	Weak transcription	Stomach Mucosa	stomach
15	chr13:111280400-111287000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr13:111280800-111286600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr13:111280800-111286600	Weak transcription	Brain Angular Gyrus	brain
18	chr13:111280800-111328600	Weak transcription	Psoas Muscle	Psoas
19	chr13:111281200-111286800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr13:111281400-111286400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr13:111281400-111286600	Weak transcription	Brain Germinal Matrix	brain
22	chr13:111281400-111286800	Weak transcription	Left Ventricle	heart
23	chr13:111281400-111287200	Weak transcription	Fetal Heart	heart
24	chr13:111281400-111288600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:111281400-111293000	Weak transcription	Right Atrium	heart
26	chr13:111281600-111286600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr13:111281600-111286600	Weak transcription	Right Ventricle	heart
28	chr13:111281600-111286800	Weak transcription	Brain Substantia Nigra	brain
29	chr13:111281600-111287000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr13:111281600-111287000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr13:111281600-111287000	Weak transcription	HMEC	breast
32	chr13:111282000-111286800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr13:111282000-111309600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr13:111282400-111286400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr13:111282400-111286600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr13:111282400-111286600	Weak transcription	NHLF	lung
37	chr13:111282400-111286800	Weak transcription	Colonic Mucosa	Colon
38	chr13:111282400-111286800	Weak transcription	Fetal Lung	lung
39	chr13:111282600-111286400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr13:111282600-111286400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr13:111282800-111310000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr13:111283200-111286600	Weak transcription	Brain Anterior Caudate	brain
43	chr13:111283400-111286600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr13:111283400-111286800	Weak transcription	Esophagus	oesophagus
45	chr13:111283400-111286800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr13:111283600-111286400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr13:111283600-111286400	Weak transcription	Thymus	Thymus
48	chr13:111283600-111286400	Weak transcription	HepG2	liver
49	chr13:111283600-111286600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr13:111283600-111286600	Weak transcription	Aorta	Aorta

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