Variant report

Variant	rs11737208
Chromosome Location	chr4:8318446-8318447
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	EP300	chr4:8317087-8318549	ECC-1	luminal epithelium:	n/a	n/a
2	ZBTB7A	chr4:8317438-8318641	ECC-1	luminal epithelium:	n/a	n/a
3	TCF12	chr4:8317063-8318615	ECC-1	luminal epithelium:	n/a	n/a
4	ZBTB7A	chr4:8317422-8318615	ECC-1	luminal epithelium:	n/a	n/a
5	TCF12	chr4:8317115-8318613	ECC-1	luminal epithelium:	n/a	n/a
6	NFIC	chr4:8317090-8318454	ECC-1	luminal epithelium:	n/a	n/a
7	MAZ	chr4:8317149-8318562	IMR90	lung:	n/a	chr4:8317869-8317879

No.	Distal block	Cell Line	Cell type
1	chr4:8315694..8318647-chr4:8336893..8339393,2	K562	blood:
2	chr4:8312041..8314245-chr4:8317234..8319161,2	K562	blood:
3	chr4:8183603..8185806-chr4:8316475..8318494,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248986	TF binding region
ENSG00000249145	TF binding region
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12640734	0.89[ASN][1000 genomes]
rs71175476	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73226012	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73226013	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv461218	chr4:8254784-8320126	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv593628	chr4:8254784-8320126	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8311800-8320800	Weak transcription	Psoas Muscle	Psoas
2	chr4:8316400-8318800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:8316600-8318600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:8316600-8318600	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:8316600-8319000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:8316600-8319000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr4:8316600-8319200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:8316600-8321000	Enhancers	Fetal Heart	heart
9	chr4:8316800-8318600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:8316800-8318600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr4:8316800-8318800	Enhancers	Fetal Muscle Leg	muscle
12	chr4:8316800-8318800	Enhancers	Thymus	Thymus
13	chr4:8316800-8319000	Enhancers	Ovary	ovary
14	chr4:8316800-8319200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:8316800-8319200	Enhancers	Fetal Thymus	thymus
16	chr4:8316800-8319400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr4:8317000-8318600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:8317000-8318600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:8317000-8318600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:8317000-8318600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:8317000-8318600	Enhancers	Fetal Stomach	stomach
22	chr4:8317000-8318600	Enhancers	NHLF	lung
23	chr4:8317000-8318800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:8317000-8319000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:8317200-8318600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr4:8317200-8318600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:8317200-8318800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:8317200-8318800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:8317200-8319000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:8317400-8318600	Enhancers	Fetal Brain Male	brain
31	chr4:8317400-8318600	Enhancers	Placenta	Placenta
32	chr4:8317400-8318800	Enhancers	Brain Germinal Matrix	brain
33	chr4:8317400-8318800	Enhancers	HUVEC	blood vessel
34	chr4:8317400-8319000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr4:8317400-8319000	Enhancers	HSMMtube	muscle
36	chr4:8317600-8322800	Weak transcription	Fetal Kidney	kidney
37	chr4:8317600-8323000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr4:8317800-8318600	Enhancers	HMEC	breast
39	chr4:8317800-8318600	Enhancers	NH-A	brain
40	chr4:8317800-8318600	Enhancers	NHEK	skin
41	chr4:8317800-8319000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:8317800-8319000	Enhancers	HSMM	muscle
43	chr4:8317800-8319200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr4:8317800-8319400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:8317800-8326200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr4:8318000-8318800	Enhancers	A549	lung
47	chr4:8318000-8319000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:8318000-8319000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:8318000-8319000	Enhancers	Stomach Smooth Muscle	stomach
50	chr4:8318000-8320600	Weak transcription	Right Atrium	heart

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