Variant report

Variant	rs3814740
Chromosome Location	chr11:66102088-66102089
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66101875-66105316	IMR90	lung:	n/a	n/a
2	HMGN3	chr11:66101971-66102094	K562	blood:	n/a	n/a
3	POLR2A	chr11:66101873-66102118	U87	brain:	n/a	n/a
4	CTCF	chr11:66102080-66102230	NHEK	skin:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66102055-66102105	ECC-1	luminal epithelium:	n/a
2	chr11:66102055-66102105	MCF-7	breast:	n/a
3	chr11:66102055-66102105	AG10803	skin:	n/a
4	chr11:66102055-66102105	Hepatocyte	liver:	n/a
5	chr11:66102062-66102112	SKMC	muscle:	n/a
6	chr11:66102055-66102105	HCM	heart:	n/a
7	chr11:66102062-66102112	HEK293	kidney:	embryo
8	chr11:66102055-66102105	AoSMC	blood vessel:	n/a
9	chr11:66102055-66102105	Hela-S3	cervix:	n/a
10	chr11:66102062-66102112	GM12878	blood:	n/a
11	chr11:66102055-66102105	PrEC	prostate:	n/a
12	chr11:66102062-66102112	PrEC	prostate:	n/a
13	chr11:66102055-66102105	HMEC	breast:	n/a
14	chr11:66102055-66102105	HEEpiC	esophagus:	n/a
15	chr11:66102055-66102105	ProgFib	skin:	n/a
16	chr11:66102062-66102112	GM19239	blood:	n/a
17	chr11:66102062-66102112	HRPEpiC	eye:	n/a
18	chr11:66102055-66102105	NT2-D1	testis:	n/a
19	chr11:66102055-66102105	HEK293	kidney:	embryo
20	chr11:66102055-66102105	NHDF-neo	bronchial:	n/a
21	chr11:66102062-66102112	SAEC	small airway:	n/a
22	chr11:66102055-66102105	HCT-116	colon:	n/a
23	chr11:66102062-66102112	HCPEpiC	choroid plexus:	n/a
24	chr11:66102062-66102112	NH-A	brain:	n/a
25	chr11:66102062-66102112	K562	blood:	n/a
26	chr11:66102062-66102112	AG04449	skin:	fetal
27	chr11:66102055-66102105	ovcar-3	ovarian:	n/a
28	chr11:66102062-66102112	SK-N-SH_RA	brain:	n/a
29	chr11:66102062-66102112	ECC-1	luminal epithelium:	n/a
30	chr11:66102055-66102105	HNPCEpiC	eye:	n/a
31	chr11:66102062-66102112	HPAEpiC	pulmonary alveolar:	n/a
32	chr11:66102055-66102105	AG04450	lung:	fetal
33	chr11:66102055-66102105	IMR90	lung:	fetal
34	chr11:66102062-66102112	HMEC	breast:	n/a
35	chr11:66102062-66102112	HNPCEpiC	eye:	n/a
36	chr11:66102062-66102112	AG09319	gingival:	n/a
37	chr11:66102062-66102112	H1-hESC	embryonic stem cell:	embryo
38	chr11:66102055-66102105	HRE	kidney:	n/a
39	chr11:66102055-66102105	Jurkat	blood:	n/a
40	chr11:66102055-66102105	GM19239	blood:	n/a
41	chr11:66102055-66102105	HIPEpiC	eye:	n/a
42	chr11:66102062-66102112	HRCEpiC	kidney:	n/a
43	chr11:66102062-66102112	HUVEC	blood vessel:	n/a
44	chr11:66102055-66102105	MCF10A-Er-Src	breast:	n/a
45	chr11:66102055-66102105	HAEpiC	amniotic membrane:	n/a
46	chr11:66102055-66102105	AG09309	skin:	n/a
47	chr11:66102062-66102112	SK-N-SH	brain:	n/a
48	chr11:66102055-66102105	GM12891	blood:	n/a
49	chr11:66102055-66102105	HRCEpiC	kidney:	n/a
50	chr11:66102055-66102105	CMK	blood:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66045260..66048745-chr11:66100560..66104011,3	K562	blood:
2	chr11:66077376..66081785-chr11:66101114..66107038,7	MCF-7	breast:
3	chr11:66053447..66056540-chr11:66100445..66105768,7	MCF-7	breast:
4	chr11:66102037..66105089-chr11:66137738..66140850,8	MCF-7	breast:
5	chr11:66099391..66103232-chr11:66136865..66139271,3	K562	blood:
6	chr11:66078237..66081093-chr11:66098609..66103641,6	K562	blood:

No data

Variant related genes	Relation type
RIN1	TF binding region
RIN1	CpG island
ENSG00000174871	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000245156	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11537930	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1190621	0.95[EUR][1000 genomes]
rs1190622	0.89[EUR][1000 genomes]
rs1190623	0.95[EUR][1000 genomes]
rs1212135	0.94[EUR][1000 genomes]
rs2016960	0.95[EUR][1000 genomes]
rs3016311	0.95[EUR][1000 genomes]
rs3016316	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3016317	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56240803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57004348	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58221849	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59651473	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7950463	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs948360	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv1813137	chr11:66098322-66106725	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
9	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	esv1850142	chr11:66099494-66105817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3814740	RIN1	cis	Whole Blood	GTEx
rs3814740	RP11-867G23.12	cis	Whole Blood	GTEx

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66084600-66103200	Weak transcription	Small Intestine	intestine
2	chr11:66093200-66102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:66094400-66102800	Weak transcription	Psoas Muscle	Psoas
4	chr11:66095000-66102800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:66096400-66102400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:66096400-66102400	Weak transcription	HSMM	muscle
7	chr11:66096400-66102600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:66096400-66102600	Weak transcription	HSMMtube	muscle
9	chr11:66096400-66102800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:66096400-66102800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:66096400-66102800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:66096400-66102800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:66096400-66102800	Weak transcription	Left Ventricle	heart
14	chr11:66096400-66102800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:66096400-66102800	Weak transcription	Right Atrium	heart
16	chr11:66096400-66103000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:66096400-66103000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:66096400-66104400	Weak transcription	Dnd41	blood
19	chr11:66096600-66102400	Weak transcription	Stomach Mucosa	stomach
20	chr11:66096600-66102400	Weak transcription	A549	lung
21	chr11:66096600-66102600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:66096600-66102800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:66096600-66102800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:66096600-66102800	Weak transcription	Fetal Lung	lung
25	chr11:66096600-66103000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:66097000-66102400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:66097600-66102600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:66098000-66103400	Weak transcription	Aorta	Aorta
29	chr11:66098400-66102800	Weak transcription	K562	blood
30	chr11:66098400-66108800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:66098600-66102400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:66099000-66102400	Strong transcription	Fetal Stomach	stomach
33	chr11:66099000-66102800	Strong transcription	Fetal Intestine Small	intestine
34	chr11:66099000-66103200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:66099200-66102200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:66099200-66102200	Strong transcription	Lung	lung
37	chr11:66100000-66102200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:66100400-66102200	Weak transcription	Right Ventricle	heart
39	chr11:66100800-66102400	Weak transcription	HepG2	liver
40	chr11:66100800-66102800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:66101000-66102200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr11:66101000-66102200	Genic enhancers	Spleen	Spleen
43	chr11:66101000-66102400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:66101000-66102800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:66101000-66102800	Weak transcription	Colon Smooth Muscle	Colon
46	chr11:66101000-66102800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr11:66101000-66103200	Transcr. at gene 5' and 3'	NHLF	lung
48	chr11:66101200-66102200	Weak transcription	Ovary	ovary
49	chr11:66101200-66102400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:66101200-66102400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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