Variant report

Variant	rs3735643
Chromosome Location	chr7:127224193-127224194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:127223511-127226381	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:127224006-127224281	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127203098..127205037-chr7:127222496..127224357,2	MCF-7	breast:
2	chr7:127223867..127227193-chr7:127227909..127230578,5	MCF-7	breast:
3	chr7:127030414..127032802-chr7:127220953..127224227,3	K562	blood:
4	chr7:127210811..127213532-chr7:127222493..127224995,2	K562	blood:
5	chr7:127193697..127196034-chr7:127222065..127224629,3	K562	blood:
6	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
7	chr7:127222868..127230871-chr7:127290370..127294912,16	K562	blood:

No data

Variant related genes	Relation type
ARF5	TF binding region
ENSG00000197157	Chromatin interaction
ENSG00000004059	Chromatin interaction
ENSG00000240790	Chromatin interaction
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10232298	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327518	0.80[AMR][1000 genomes]
rs806217	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3735643	C7orf54	cis	brain	BrainEAC

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127220200-127224200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
2	chr7:127221000-127224200	Genic enhancers	Primary T cells fromperipheralblood	blood
3	chr7:127221000-127224200	Enhancers	Fetal Heart	heart
4	chr7:127221200-127224200	Genic enhancers	Gastric	stomach
5	chr7:127221800-127224400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
6	chr7:127222000-127224200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:127222200-127224200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:127222200-127224200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:127223000-127224800	Enhancers	Small Intestine	intestine
10	chr7:127223200-127224200	Genic enhancers	Primary B cells from cord blood	blood
11	chr7:127223200-127224200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr7:127223200-127224400	Enhancers	Liver	Liver
13	chr7:127223200-127224400	Enhancers	Spleen	Spleen
14	chr7:127223400-127224200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:127223400-127224200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:127223400-127224200	Enhancers	Brain Substantia Nigra	brain
17	chr7:127223400-127224400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:127223400-127224400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:127223400-127224400	Enhancers	Left Ventricle	heart
20	chr7:127223400-127224800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:127223400-127224800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:127223400-127225200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:127223600-127224200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:127223600-127224200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
25	chr7:127223600-127224400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:127223600-127224400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr7:127223600-127224400	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr7:127223600-127224400	Enhancers	Lung	lung
29	chr7:127223600-127224400	Transcr. at gene 5' and 3'	HSMM	muscle
30	chr7:127223600-127224600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:127223600-127224800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr7:127223600-127225000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:127223600-127225000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:127223600-127225000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr7:127223600-127225000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr7:127223600-127225000	Flanking Active TSS	NHEK	skin
37	chr7:127223600-127225000	Flanking Active TSS	NHLF	lung
38	chr7:127223600-127225200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr7:127223600-127225200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:127223600-127225200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:127223600-127225200	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr7:127223600-127225200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:127223600-127225200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr7:127223600-127225200	Flanking Active TSS	HUVEC	blood vessel
45	chr7:127223800-127224200	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:127223800-127224200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
47	chr7:127223800-127224200	Genic enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:127223800-127224200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
49	chr7:127223800-127224200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:127223800-127224200	Enhancers	Fetal Kidney	kidney

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