Variant report

Variant	rs7935572
Chromosome Location	chr11:66183923-66183924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66183445-66184237	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66176168..66179567-chr11:66180663..66184419,5	K562	blood:
2	chr11:66173655..66176306-chr11:66183166..66186139,2	K562	blood:
3	chr11:66183845..66188748-chr11:66244741..66247932,5	MCF-7	breast:
4	chr11:66183520..66189580-chr11:66204076..66208200,8	K562	blood:
5	chr11:66182999..66185054-chr11:66303368..66305877,2	K562	blood:

No data

Variant related genes	Relation type
NPAS4	TF binding region
ENSG00000254986	Chromatin interaction
ENSG00000254510	Chromatin interaction
ENSG00000255517	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000269990	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1791682	0.83[GIH][hapmap]
rs560577	0.83[GIH][hapmap]
rs73503363	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7935572	RIN1	cis	multi-tissue	Pritchard
rs7935572	RIN1	cis	Whole Blood	GTEx
rs7935572	ACTN3	cis	lymphoblastoid	seeQTL
rs7935572	RP11-867G23.12	cis	Whole Blood	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66177400-66185000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:66177600-66184600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:66179200-66185200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:66179400-66185000	Weak transcription	Aorta	Aorta
5	chr11:66179400-66185200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:66180000-66185400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:66180400-66185200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:66182000-66185400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:66182000-66185400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:66182000-66185400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:66182000-66185400	Weak transcription	Brain Angular Gyrus	brain
12	chr11:66182000-66186000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:66182200-66184800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:66182200-66185200	Weak transcription	Fetal Stomach	stomach
15	chr11:66182400-66184400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:66182400-66185000	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:66182800-66185200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:66182800-66185200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:66182800-66185400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:66182800-66185400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:66183000-66184000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:66183000-66184200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:66183000-66185200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:66183000-66185200	Enhancers	Fetal Heart	heart
25	chr11:66183000-66185400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:66183200-66185200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:66183400-66184800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:66183400-66185600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:66183600-66184400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:66183600-66185400	Enhancers	Fetal Brain Male	brain
31	chr11:66183600-66186800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:66183600-66187000	Enhancers	Left Ventricle	heart
33	chr11:66183600-66187200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr11:66183600-66188800	Enhancers	Right Atrium	heart
35	chr11:66183800-66184400	Enhancers	Brain Anterior Caudate	brain
36	chr11:66183800-66184400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:66183800-66185000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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