Variant report

Variant	rs7505097
Chromosome Location	chr18:12287460-12287461
allele	A/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	ZNF263	chr18:12287266-12288260	HEK293-T-REx	kidney:	n/a	chr18:12287668-12287677
2	E2F6	chr18:12286977-12287872	H1-hESC	embryonic stem cell:	n/a	chr18:12287617-12287626 chr18:12287387-12287399
3	TEAD4	chr18:12287391-12287705	H1-hESC	embryonic stem cell:	n/a	n/a
4	GTF2F1	chr18:12287345-12287505	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZBTB7A	chr18:12287414-12288704	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr18:12287375-12287795	ECC-1	luminal epithelium:	n/a	n/a
7	TBP	chr18:12287181-12287736	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr18:12287327-12288525	ECC-1	luminal epithelium:	n/a	chr18:12287803-12287813 chr18:12287856-12287866
9	ZNF143	chr18:12287422-12287672	H1-hESC	embryonic stem cell:	n/a	chr18:12287499-12287517
10	TEAD4	chr18:12287198-12287746	H1-hESC	embryonic stem cell:	n/a	n/a
11	TEAD4	chr18:12287354-12288633	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr18:12286987-12289319	IMR90	lung:	n/a	n/a
13	SIN3A	chr18:12287134-12289055	H1-hESC	embryonic stem cell:	n/a	chr18:12287919-12287930 chr18:12287299-12287310
14	POLR2A	chr18:12287421-12287474	HUVEC	blood vessel:	n/a	n/a
15	HMGN3	chr18:12287262-12287462	K562	blood:	n/a	n/a
16	CTCF	chr18:12287460-12287610	AG09319	gingival:	n/a	chr18:12287562-12287575
17	MAX	chr18:12287069-12288484	H1-hESC	embryonic stem cell:	n/a	chr18:12287803-12287813 chr18:12287856-12287866
18	CHD2	chr18:12287404-12287586	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr18:12287340-12287490	SAEC	small airway:	n/a	n/a
20	GABPA	chr18:12287136-12287831	H1-hESC	embryonic stem cell:	n/a	chr18:12287616-12287630
21	CTBP2	chr18:12287123-12289209	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr18:12287112-12287481	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr18:12287340-12287490	HMEC	breast:	n/a	n/a
24	MAX	chr18:12287070-12288028	H1-hESC	embryonic stem cell:	n/a	chr18:12287803-12287813 chr18:12287856-12287866
25	E2F6	chr18:12287059-12287776	H1-hESC	embryonic stem cell:	n/a	chr18:12287617-12287626 chr18:12287387-12287399
26	MXI1	chr18:12287456-12288948	IMR90	lung:	n/a	n/a
27	CHD1	chr18:12287180-12289472	IMR90	lung:	n/a	chr18:12288255-12288265

No.	Distal block	Cell Line	Cell type
1	chr18:12285413..12287780-chr18:12306956..12309734,2	K562	blood:
2	chr18:12282475..12288140-chr18:12305542..12311210,9	K562	blood:
3	chr18:12285640..12287691-chr18:12304617..12306840,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267069	TF binding region
ENSG00000176014	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11662978	0.84[AFR][1000 genomes]
rs4797667	0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4797668	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8084284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv909401	chr18:12211483-12312075	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv870342	chr18:12270808-12295798	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1058661	chr18:12280366-12313865	Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12279600-12287600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr18:12280000-12287800	Weak transcription	Ovary	ovary
3	chr18:12280400-12287600	Weak transcription	Aorta	Aorta
4	chr18:12280400-12287600	Weak transcription	Lung	lung
5	chr18:12283200-12287800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr18:12284800-12287800	Weak transcription	K562	blood
7	chr18:12286800-12287600	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr18:12287000-12288000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:12287000-12288400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr18:12287000-12289000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr18:12287200-12287600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:12287200-12287600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:12287200-12287600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr18:12287200-12287600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:12287200-12287600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr18:12287200-12287600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr18:12287200-12287600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr18:12287200-12287600	Bivalent Enhancer	Placenta	Placenta
19	chr18:12287200-12287600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
20	chr18:12287200-12287600	Enhancers	Hela-S3	cervix
21	chr18:12287200-12287600	Enhancers	NH-A	brain
22	chr18:12287200-12287800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr18:12287200-12287800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
24	chr18:12287200-12287800	Enhancers	Fetal Heart	heart
25	chr18:12287200-12287800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
26	chr18:12287200-12288000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr18:12287200-12288000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr18:12287200-12288000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr18:12287200-12288000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
30	chr18:12287200-12288000	Flanking Active TSS	HMEC	breast
31	chr18:12287200-12288000	Flanking Active TSS	HSMMtube	muscle
32	chr18:12287200-12288200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:12287200-12288400	Active TSS	Colon Smooth Muscle	Colon
34	chr18:12287200-12288400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
35	chr18:12287200-12288600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr18:12287200-12288600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr18:12287200-12289000	Bivalent Enhancer	Fetal Brain Male	brain
38	chr18:12287200-12289200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr18:12287200-12289400	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr18:12287400-12287600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr18:12287400-12287600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr18:12287400-12287600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:12287400-12287600	Enhancers	Adipose Nuclei	Adipose
44	chr18:12287400-12287600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
45	chr18:12287400-12287600	Bivalent Enhancer	Brain Germinal Matrix	brain
46	chr18:12287400-12287600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr18:12287400-12287600	Enhancers	Brain Substantia Nigra	brain
48	chr18:12287400-12287600	Bivalent Enhancer	Colonic Mucosa	Colon
49	chr18:12287400-12287600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
50	chr18:12287400-12287600	Bivalent/Poised TSS	Fetal Intestine Large	intestine

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