Variant report

Variant	rs6918698
Chromosome Location	chr6:132273257-132273258
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr6:132273212-132273362	Hela-S3	cervix:	n/a	n/a
2	TEAD4	chr6:132272175-132273386	HepG2	liver:	n/a	n/a
3	JUND	chr6:132272338-132273288	H1-hESC	embryonic stem cell:	n/a	chr6:132273158-132273169 chr6:132272521-132272530 chr6:132272566-132272575 chr6:132273160-132273168
4	NFIC	chr6:132272167-132273365	HepG2	liver:	n/a	n/a
5	CHD1	chr6:132266417-132273369	IMR90	lung:	n/a	n/a
6	NFIC	chr6:132269644-132273389	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr6:132266668-132273305	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr6:132266792-132273670	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA2	chr6:132269910-132273268	HUVEC	blood vessel:	n/a	chr6:132273158-132273167
10	POLR2A	chr6:132267380-132273359	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr6:132267273-132273378	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:132269655-132282174..6:132454814-132459405	GM12878	blood:
2	6:132269655-132282174..6:132434977-132438109	Hela-S3	cervix:
3	6:132269655-132282174..6:132402790-132406656	H1-hESC	embryonic stem cell:	embryo
4	6:132269655-132282174..6:132480387-132483283	H1-hESC	embryonic stem cell:	embryo
5	chr6:132267661..132270046-chr6:132272671..132275196,2	MCF-7	breast:

Variant related genes	Relation type
CTGF	TF binding region
ENSG00000265669	Chromatin interaction
ENSG00000236166	Chromatin interaction
ENSG00000228495	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1931003	0.88[EUR][1000 genomes]
rs6918923	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9388949	0.88[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][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	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv3398326	chr6:132269959-132274257	Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a
3	esv3405704	chr6:132270884-132273432	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	esv3356801	chr6:132271409-132273607	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6918698	RP3-523C21.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132272400-132273400	Enhancers	Placenta	Placenta
2	chr6:132272600-132273400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:132272600-132273600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:132272600-132274000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:132272600-132274400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:132272600-132274400	Weak transcription	Lung	lung
7	chr6:132272600-132275800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:132272600-132276000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:132272600-132279400	Weak transcription	Pancreas	Pancrea
10	chr6:132272800-132273400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:132272800-132273400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:132272800-132273400	Enhancers	Brain Angular Gyrus	brain
13	chr6:132272800-132273400	Flanking Active TSS	Colon Smooth Muscle	Colon
14	chr6:132272800-132273400	Flanking Active TSS	Fetal Heart	heart
15	chr6:132272800-132273400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr6:132272800-132273400	Flanking Active TSS	Osteobl	bone
17	chr6:132272800-132273600	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr6:132272800-132273800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:132272800-132273800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:132272800-132274400	Weak transcription	Left Ventricle	heart
21	chr6:132272800-132274800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:132272800-132274800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:132272800-132277200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:132273000-132273400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:132273000-132273400	Bivalent Enhancer	Brain Anterior Caudate	brain
26	chr6:132273000-132273400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr6:132273000-132273400	Flanking Active TSS	Fetal Kidney	kidney
28	chr6:132273000-132273400	Enhancers	Fetal Lung	lung
29	chr6:132273000-132273400	Enhancers	Hela-S3	cervix
30	chr6:132273000-132273600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:132273000-132273600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:132273000-132273600	Enhancers	Brain Substantia Nigra	brain
33	chr6:132273000-132273600	Enhancers	Ovary	ovary
34	chr6:132273000-132273800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
35	chr6:132273000-132273800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:132273000-132273800	Enhancers	Brain Cingulate Gyrus	brain
37	chr6:132273000-132274000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:132273000-132274000	Enhancers	HMEC	breast
39	chr6:132273000-132274400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:132273000-132274400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:132273000-132274400	Enhancers	NHEK	skin
42	chr6:132273000-132274800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr6:132273000-132274800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:132273000-132274800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr6:132273000-132275400	Weak transcription	Fetal Intestine Large	intestine
46	chr6:132273000-132275600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr6:132273000-132275800	Enhancers	HSMM	muscle
48	chr6:132273000-132276000	Weak transcription	Right Ventricle	heart
49	chr6:132273000-132277200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:132273000-132277400	Enhancers	H9 Cell Line	embryonic stem cell

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