Variant report

Variant	rs12703108
Chromosome Location	chr7:150717550-150717551
allele	C/T
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	chr7:150717326-150717876	HEK293-T-REx	kidney:	n/a	chr7:150717553-150717562 chr7:150717713-150717722 chr7:150717464-150717473 chr7:150717448-150717469 chr7:150717447-150717456

No.	Distal block	Cell Line	Cell type
1	chr7:150708483..150712186-chr7:150712647..150718557,9	MCF-7	breast:
2	chr7:150713297..150718122-chr7:150719622..150723511,6	MCF-7	breast:
3	chr7:150713283..150718085-chr7:150719345..150725201,8	MCF-7	breast:
4	chr7:150677750..150680138-chr7:150716469..150718503,2	MCF-7	breast:

Variant related genes	Relation type
ATG9B	TF binding region
ENSG00000181652	Chromatin interaction
ENSG00000164867	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11760487	0.83[EUR][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	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
8	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
9	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv889471	chr7:150700946-150751590	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	esv3358756	chr7:150715069-150717867	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150715600-150718800	Enhancers	Fetal Heart	heart
2	chr7:150715600-150718800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr7:150715800-150718000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr7:150715800-150718400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr7:150715800-150718600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:150715800-150721600	Weak transcription	A549	lung
7	chr7:150716200-150717600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:150716200-150717800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr7:150716200-150717800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:150716200-150718600	Bivalent Enhancer	Placenta	Placenta
11	chr7:150716200-150725000	Weak transcription	Right Atrium	heart
12	chr7:150716400-150717600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr7:150716400-150717600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
14	chr7:150716400-150717600	Bivalent Enhancer	Esophagus	oesophagus
15	chr7:150716400-150718200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr7:150716400-150718400	Enhancers	K562	blood
17	chr7:150716600-150718200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr7:150716600-150718400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:150716800-150717800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:150716800-150718400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:150716800-150723200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:150717000-150718000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:150717000-150718200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr7:150717000-150718600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:150717200-150717600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:150717200-150718000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr7:150717200-150718600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:150717400-150717800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
29	chr7:150717400-150717800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:150717400-150717800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:150717400-150717800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:150717400-150718200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:150717400-150718400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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