Variant report

Variant	rs330551
Chromosome Location	chr13:111268196-111268197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111158551..111160525-chr13:111267801..111269585,2	MCF-7	breast:
2	chr13:111266678..111269187-chr13:111295319..111298212,3	MCF-7	breast:
3	chr13:111266655..111268705-chr13:111294879..111298471,3	K562	blood:
4	chr13:111266587..111269692-chr13:111357018..111359356,4	K562	blood:
5	chr13:111265515..111270086-chr13:111364987..111368051,5	MCF-7	breast:
6	chr12:51157105..51157794-chr13:111267888..111268432,2	Hela-S3	cervix:
7	chr13:111268021..111270238-chr13:111291368..111294151,2	MCF-7	breast:
8	chr13:111268194..111268777-chr6:12010640..12011635,2	Hela-S3	cervix:
9	chr13:111268040..111269954-chr13:111270156..111273298,3	K562	blood:
10	chr13:111267620..111268282-chr20:46130126..46130887,2	Hela-S3	cervix:
11	chr13:111266965..111271727-chr13:111364973..111369025,9	MCF-7	breast:
12	chr13:111266746..111269387-chr13:111357064..111359748,3	MCF-7	breast:
13	chr13:111267596..111269197-chr13:111364131..111366094,2	K562	blood:
14	chr13:111267467..111269967-chr13:111564590..111568374,3	MCF-7	breast:
15	chr13:111267645..111268224-chr17:7747085..7747789,2	Hela-S3	cervix:
16	chr13:111266944..111268705-chr13:111296076..111298471,2	K562	blood:
17	chr12:50677315..50677913-chr13:111267621..111268237,2	Hela-S3	cervix:
18	chr13:111267631..111268254-chr5:108083564..108084113,2	Hela-S3	cervix:
19	chr13:111265756..111270693-chr13:111363417..111370660,10	K562	blood:
20	chr13:111267851..111270253-chr13:111566067..111568371,3	K562	blood:
21	chr13:111266737..111268751-chr13:111366724..111368921,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000050405	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000132510	Chromatin interaction
ENSG00000151422	Chromatin interaction
ENSG00000134871	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000123268	Chromatin interaction
ENSG00000255831	Chromatin interaction
ENSG00000088448	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1043886	0.82[EUR][1000 genomes]
rs11551105	0.89[EUR][1000 genomes]
rs16940507	0.89[EUR][1000 genomes]
rs179356	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs191322	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2765341	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2986320	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs330542	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs330543	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs330544	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs330545	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs330546	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs330547	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs330548	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs330549	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs330557	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs330559	0.89[EUR][1000 genomes]
rs330569	0.84[EUR][1000 genomes]
rs330572	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs371162	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759463	0.89[EUR][1000 genomes]
rs379324	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs380564	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs389541	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41275126	0.88[EUR][1000 genomes]
rs41275128	0.90[EUR][1000 genomes]
rs412822	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs422789	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs440771	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61970483	0.89[EUR][1000 genomes]
rs61970484	0.89[EUR][1000 genomes]
rs61970486	0.87[EUR][1000 genomes]
rs61970489	0.89[EUR][1000 genomes]
rs61970494	0.84[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	nsv901011	chr13:111168951-111280002	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
12	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
13	nsv1038089	chr13:111229517-111274823	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv525124	chr13:111261267-111280002	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
17	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
18	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs330551	CARKD	cis	Whole Blood	GTEx
rs330551	AL139385.1	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111267000-111269000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:111267200-111268600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr13:111267200-111268800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr13:111267200-111268800	Active TSS	Brain Anterior Caudate	brain
5	chr13:111267200-111268800	Active TSS	HSMMtube	muscle
6	chr13:111267200-111268800	Active TSS	NHLF	lung
7	chr13:111267200-111269000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:111267200-111269000	Active TSS	Rectal Smooth Muscle	rectum
9	chr13:111267200-111269400	Active TSS	A549	lung
10	chr13:111267200-111270000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:111267400-111268400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:111267400-111268600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr13:111267400-111268600	Active TSS	Fetal Lung	lung
14	chr13:111267400-111268800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr13:111267400-111268800	Active TSS	Primary T cells from cord blood	blood
16	chr13:111267400-111268800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:111267400-111268800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
18	chr13:111267400-111268800	Active TSS	Fetal Brain Female	brain
19	chr13:111267400-111268800	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr13:111267400-111269000	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr13:111267400-111269000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr13:111267400-111269000	Active TSS	Brain Angular Gyrus	brain
23	chr13:111267400-111269000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr13:111267400-111269200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr13:111267400-111269200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:111267400-111269200	Active TSS	Left Ventricle	heart
27	chr13:111267400-111269200	Active TSS	Right Ventricle	heart
28	chr13:111267400-111269800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr13:111267600-111268400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr13:111267600-111268400	Active TSS	Primary B cells from cord blood	blood
31	chr13:111267600-111268400	Active TSS	Colonic Mucosa	Colon
32	chr13:111267600-111268600	Active TSS	Lung	lung
33	chr13:111267600-111268800	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr13:111267600-111268800	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr13:111267600-111268800	Active TSS	Colon Smooth Muscle	Colon
36	chr13:111267600-111268800	Active TSS	Fetal Intestine Large	intestine
37	chr13:111267600-111268800	Active TSS	Hela-S3	cervix
38	chr13:111267600-111269000	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr13:111267600-111269000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr13:111267600-111269000	Active TSS	Liver	Liver
41	chr13:111267600-111269200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr13:111267600-111269200	Active TSS	Psoas Muscle	Psoas
43	chr13:111267600-111269400	Active TSS	H9 Cell Line	embryonic stem cell
44	chr13:111267600-111269400	Active TSS	Esophagus	oesophagus
45	chr13:111267600-111269400	Active TSS	Right Atrium	heart
46	chr13:111267800-111268400	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr13:111267800-111268400	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr13:111267800-111268400	Active TSS	Adipose Nuclei	Adipose
49	chr13:111267800-111268400	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr13:111267800-111268400	Active TSS	Stomach Smooth Muscle	stomach

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