Variant report

Variant	rs71175476
Chromosome Location	chr4:8318304-8318305
allele	lengthTooLong
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

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	TEAD4	chr4:8317165-8318389	ECC-1	luminal epithelium:	n/a	n/a
3	ZBTB7A	chr4:8317438-8318641	ECC-1	luminal epithelium:	n/a	n/a
4	EP300	chr4:8317289-8318427	ECC-1	luminal epithelium:	n/a	n/a
5	TCF12	chr4:8317063-8318615	ECC-1	luminal epithelium:	n/a	n/a
6	ZBTB7A	chr4:8317422-8318615	ECC-1	luminal epithelium:	n/a	n/a
7	NFIC	chr4:8317144-8318427	ECC-1	luminal epithelium:	n/a	n/a
8	TCF12	chr4:8317115-8318613	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr4:8317089-8318350	ECC-1	luminal epithelium:	n/a	chr4:8317869-8317879
10	ESR1	chr4:8317301-8318345	ECC-1	luminal epithelium:	n/a	chr4:8317748-8317763
11	ESR1	chr4:8318006-8318373	ECC-1	luminal epithelium:	n/a	n/a
12	NFIC	chr4:8317090-8318454	ECC-1	luminal epithelium:	n/a	n/a
13	MAZ	chr4:8317149-8318562	IMR90	lung:	n/a	chr4:8317869-8317879
14	TEAD4	chr4:8317308-8318343	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr4:8317162-8318324	A549	lung:	n/a	chr4:8317869-8317879
16	ESR1	chr4:8317086-8318381	ECC-1	luminal epithelium:	n/a	chr4:8317748-8317763

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8315694..8318647-chr4:8336893..8339393,2	K562	blood:
2	chr4:8306129..8312354-chr4:8314662..8318399,6	MCF-7	breast:
3	chr4:8312041..8314245-chr4:8317234..8319161,2	K562	blood:
4	chr4:8183603..8185806-chr4:8316475..8318494,2	MCF-7	breast:

No data

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11737208	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12640734	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
11	esv3368146	chr4:8318151-8318334	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
12	esv1057015	chr4:8318266-8318304	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
13	nsv290328	chr4:8318287-8318324	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:75 , 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	chr4:8316800-8318400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:8316800-8318400	Enhancers	Left Ventricle	heart
11	chr4:8316800-8318600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:8316800-8318600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:8316800-8318800	Enhancers	Fetal Muscle Leg	muscle
14	chr4:8316800-8318800	Enhancers	Thymus	Thymus
15	chr4:8316800-8319000	Enhancers	Ovary	ovary
16	chr4:8316800-8319200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:8316800-8319200	Enhancers	Fetal Thymus	thymus
18	chr4:8316800-8319400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr4:8317000-8318400	Enhancers	Fetal Intestine Small	intestine
20	chr4:8317000-8318600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:8317000-8318600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:8317000-8318600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:8317000-8318600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:8317000-8318600	Enhancers	Fetal Stomach	stomach
25	chr4:8317000-8318600	Enhancers	NHLF	lung
26	chr4:8317000-8318800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:8317000-8319000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:8317200-8318400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr4:8317200-8318400	Enhancers	Right Ventricle	heart
30	chr4:8317200-8318600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr4:8317200-8318600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:8317200-8318800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr4:8317200-8318800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:8317200-8319000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:8317400-8318600	Enhancers	Fetal Brain Male	brain
36	chr4:8317400-8318600	Enhancers	Placenta	Placenta
37	chr4:8317400-8318800	Enhancers	Brain Germinal Matrix	brain
38	chr4:8317400-8318800	Enhancers	HUVEC	blood vessel
39	chr4:8317400-8319000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:8317400-8319000	Enhancers	HSMMtube	muscle
41	chr4:8317600-8322800	Weak transcription	Fetal Kidney	kidney
42	chr4:8317600-8323000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr4:8317800-8318400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:8317800-8318600	Enhancers	HMEC	breast
45	chr4:8317800-8318600	Enhancers	NH-A	brain
46	chr4:8317800-8318600	Enhancers	NHEK	skin
47	chr4:8317800-8319000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:8317800-8319000	Enhancers	HSMM	muscle
49	chr4:8317800-8319200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr4:8317800-8319400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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