Variant report

Variant	rs73503363
Chromosome Location	chr11:66244251-66244252
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:66244200-66244350	HEEpiC	esophagus:	n/a	n/a
2	POLR2A	chr11:66243673-66244775	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr11:66243814-66245693	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr11:66243330-66245612	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:66244021-66244800	K562	blood:	n/a	n/a
6	POLR2A	chr11:66243520-66248581	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr11:66243706-66248342	MCF-7	breast:	n/a	n/a
8	POLR2A	chr11:66244089-66244875	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:66242460-66244951	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr11:66243959-66244685	HCT-116	colon:	n/a	n/a
11	CTCF	chr11:66244220-66244370	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:66243831-66245023	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:66244239-66244608	U87	brain:	n/a	n/a
14	POLR2A	chr11:66244197-66244281	ProgFib	skin:	n/a	n/a
15	POLR2A	chr11:66243387-66244438	A549	lung:	n/a	n/a
16	POLR2A	chr11:66244069-66245123	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr11:66243723-66244730	Raji	blood:	n/a	n/a
18	POLR2A	chr11:66244215-66245216	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr11:66243528-66248662	PANC-1	pancreas:	n/a	n/a
20	CTCF	chr11:66244180-66244330	HEK293	kidney:	n/a	n/a
21	POLR2A	chr11:66243316-66244661	HL-60	blood:	n/a	n/a
22	POLR2A	chr11:66243707-66248130	K562	blood:	n/a	n/a
23	POLR2A	chr11:66243932-66245705	HCT-116	colon:	n/a	n/a
24	POLR2A	chr11:66242800-66244800	A549	lung:	n/a	n/a
25	CTCF	chr11:66244200-66244350	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr11:66244200-66244350	HBMEC	blood vessel:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66243721..66249369-chr11:66258892..66263387,7	MCF-7	breast:
2	chr11:66176296..66179598-chr11:66242738..66246499,3	MCF-7	breast:
3	chr11:66177507..66179635-chr11:66243431..66245683,2	MCF-7	breast:
4	chr11:66176391..66179593-chr11:66244055..66247322,3	K562	blood:
5	chr11:66244175..66248389-chr11:66381997..66386853,5	MCF-7	breast:
6	chr11:66243353..66245736-chr11:66254515..66256675,2	MCF-7	breast:
7	chr11:66204459..66208139-chr11:66244186..66247891,5	MCF-7	breast:
8	chr11:66175973..66176956-chr11:66243766..66244626,3	MCF-7	breast:

No data

Variant related genes	Relation type
DPP3	TF binding region
ENSG00000255517	TF binding region
ENSG00000199325	Chromatin interaction
ENSG00000254510	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000174547	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1791682	0.88[EUR][1000 genomes]
rs608504	0.83[EUR][1000 genomes]
rs73503368	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73505425	0.82[AMR][1000 genomes]
rs7935572	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73503363	RIN1	cis	Whole Blood	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66235200-66245000	Weak transcription	HSMM	muscle
2	chr11:66235200-66246200	Weak transcription	Fetal Kidney	kidney
3	chr11:66235400-66246400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr11:66235400-66246600	Weak transcription	Fetal Heart	heart
5	chr11:66235400-66246600	Weak transcription	Psoas Muscle	Psoas
6	chr11:66235400-66246600	Weak transcription	HSMMtube	muscle
7	chr11:66235600-66246400	Weak transcription	A549	lung
8	chr11:66235600-66246400	Weak transcription	Hela-S3	cervix
9	chr11:66235800-66245000	Weak transcription	Thymus	Thymus
10	chr11:66235800-66246200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr11:66235800-66246200	Weak transcription	Fetal Thymus	thymus
12	chr11:66235800-66246400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:66235800-66246400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:66235800-66246600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:66235800-66246600	Weak transcription	Primary B cells from cord blood	blood
16	chr11:66235800-66246600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:66235800-66246600	Weak transcription	Stomach Mucosa	stomach
18	chr11:66236000-66246200	Weak transcription	HepG2	liver
19	chr11:66236000-66246400	Weak transcription	Fetal Brain Male	brain
20	chr11:66236000-66246600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:66236000-66246600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:66236000-66246600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:66236000-66246600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:66236200-66245600	Strong transcription	Fetal Stomach	stomach
25	chr11:66236200-66246200	Weak transcription	Dnd41	blood
26	chr11:66236200-66246400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr11:66236400-66244600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:66236400-66245800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:66236600-66245600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr11:66237000-66244400	Strong transcription	Ovary	ovary
31	chr11:66237600-66244400	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:66237600-66245800	Strong transcription	Fetal Intestine Small	intestine
33	chr11:66237600-66246400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:66237800-66244400	Strong transcription	Adipose Nuclei	Adipose
35	chr11:66237800-66244600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:66237800-66245200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:66238000-66244400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:66238000-66245400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:66238000-66245400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:66238000-66246200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:66238400-66244400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr11:66238400-66245000	Strong transcription	Colon Smooth Muscle	Colon
43	chr11:66238400-66245400	Strong transcription	Fetal Brain Female	brain
44	chr11:66238400-66245800	Strong transcription	Spleen	Spleen
45	chr11:66238600-66245400	Strong transcription	NHLF	lung
46	chr11:66238800-66245600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:66240200-66246600	Weak transcription	Brain Angular Gyrus	brain
48	chr11:66240400-66246000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:66240400-66246600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr11:66240400-66246600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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