Variant report

Variant	rs7735544
Chromosome Location	chr5:70756067-70756068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:70750160..70755363-chr5:70755604..70762448,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145734	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10044572	0.83[EUR][1000 genomes]
rs10077085	0.83[EUR][1000 genomes]
rs10434642	0.86[EUR][1000 genomes]
rs10474383	0.86[EUR][1000 genomes]
rs10805884	0.81[EUR][1000 genomes]
rs10942284	0.84[EUR][1000 genomes]
rs10942533	0.88[EUR][1000 genomes]
rs10942682	0.86[EUR][1000 genomes]
rs10942700	0.81[EUR][1000 genomes]
rs10942702	0.83[EUR][1000 genomes]
rs10942705	0.81[EUR][1000 genomes]
rs11743135	0.90[EUR][1000 genomes]
rs11746722	0.83[EUR][1000 genomes]
rs12152748	0.82[EUR][1000 genomes]
rs12514732	0.90[EUR][1000 genomes]
rs13157835	0.83[EUR][1000 genomes]
rs3748043	0.90[EUR][1000 genomes]
rs4062889	0.83[EUR][1000 genomes]
rs4505929	0.83[EUR][1000 genomes]
rs5005863	0.81[EUR][1000 genomes]
rs6452722	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6452900	0.88[EUR][1000 genomes]
rs6453014	0.85[EUR][1000 genomes]
rs6453018	0.86[EUR][1000 genomes]
rs6453035	0.83[EUR][1000 genomes]
rs6872235	0.83[EUR][1000 genomes]
rs6872671	0.82[EUR][1000 genomes]
rs6877289	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6877773	0.83[EUR][1000 genomes]
rs6886336	0.86[EUR][1000 genomes]
rs6898471	0.85[EUR][1000 genomes]
rs715747	0.86[EUR][1000 genomes]
rs7378662	0.86[EUR][1000 genomes]
rs7380115	0.83[EUR][1000 genomes]
rs7380280	0.85[EUR][1000 genomes]
rs7444322	0.88[EUR][1000 genomes]
rs7447726	0.84[EUR][1000 genomes]
rs7448422	0.86[EUR][1000 genomes]
rs7714527	0.88[EUR][1000 genomes]
rs7715648	0.84[EUR][1000 genomes]
rs7721179	0.86[EUR][1000 genomes]
rs7727576	0.84[EUR][1000 genomes]
rs7728577	0.90[EUR][1000 genomes]
rs9968768	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv528571	chr5:70679626-70767269	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882176	chr5:70738250-70860665	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7735544	MCCC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70752200-70756400	Weak transcription	Spleen	Spleen
2	chr5:70752200-70757600	Weak transcription	Gastric	stomach
3	chr5:70752200-70758000	Weak transcription	Pancreas	Pancrea
4	chr5:70752600-70757000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:70752600-70757200	Weak transcription	Aorta	Aorta
6	chr5:70752600-70777200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:70752600-70789200	Weak transcription	Small Intestine	intestine
8	chr5:70752600-70794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:70752800-70759200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:70753000-70756800	Weak transcription	Brain Angular Gyrus	brain
11	chr5:70753000-70759200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:70753000-70759600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:70753000-70781400	Weak transcription	Fetal Heart	heart
14	chr5:70753400-70756800	Weak transcription	Right Ventricle	heart
15	chr5:70753400-70758400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:70753400-70758400	Weak transcription	NHLF	lung
17	chr5:70753400-70771800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:70753600-70759200	Weak transcription	Fetal Brain Male	brain
19	chr5:70753600-70777800	Weak transcription	Stomach Mucosa	stomach
20	chr5:70753800-70760000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:70753800-70763800	Strong transcription	HSMM	muscle
22	chr5:70754200-70769600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:70754200-70815800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:70754400-70756400	Strong transcription	Brain Cingulate Gyrus	brain
25	chr5:70754400-70756400	Strong transcription	HepG2	liver
26	chr5:70754400-70756800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:70754400-70757400	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr5:70754400-70757400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr5:70754400-70758600	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:70754400-70759800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:70754400-70760200	Strong transcription	Hela-S3	cervix
32	chr5:70754400-70760400	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr5:70754400-70760400	Strong transcription	HUVEC	blood vessel
34	chr5:70754400-70761400	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:70754400-70761600	Strong transcription	Thymus	Thymus
36	chr5:70754400-70761800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr5:70754400-70761800	Strong transcription	Ovary	ovary
38	chr5:70754400-70762200	Strong transcription	Brain Substantia Nigra	brain
39	chr5:70754400-70762200	Strong transcription	Fetal Muscle Leg	muscle
40	chr5:70754400-70762200	Strong transcription	Stomach Smooth Muscle	stomach
41	chr5:70754400-70762400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:70754400-70763200	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr5:70754400-70763200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr5:70754400-70763400	Strong transcription	A549	lung
45	chr5:70754400-70763400	Strong transcription	Osteobl	bone
46	chr5:70754400-70763600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:70754400-70763600	Strong transcription	Primary B cells from cord blood	blood
48	chr5:70754400-70763800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:70754400-70763800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:70754400-70763800	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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