Variant report

Variant	rs3918217
Chromosome Location	chr7:150712981-150712982
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	POLR2A	chr7:150712902-150713596	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:150712515-150713383	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr7:150712900-150715662	K562	blood:	n/a	n/a
4	POLR2A	chr7:150712169-150715583	K562	blood:	n/a	n/a
5	POLR2A	chr7:150712782-150713242	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr7:150712155-150714072	K562	blood:	n/a	n/a
7	POLR2A	chr7:150712259-150715039	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr7:150712105-150715567	K562	blood:	n/a	n/a
9	POLR2A	chr7:150712274-150715839	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150708483..150712186-chr7:150712647..150718557,9	MCF-7	breast:
2	chr7:150712297..150714427-chr7:150725298..150727101,2	MCF-7	breast:

Variant related genes	Relation type
ATG9B	TF binding region
ENSG00000243433	Chromatin interaction
ENSG00000164867	Chromatin interaction
ENSG00000197150	Chromatin interaction
ENSG00000181652	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2069447	1.00[AMR][1000 genomes]
rs2069448	1.00[AMR][1000 genomes]
rs33968154	1.00[AMR][1000 genomes]
rs34464052	1.00[AMR][1000 genomes]
rs3918200	1.00[AMR][1000 genomes]
rs3918202	1.00[AMR][1000 genomes]
rs3918213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3918219	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	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	nsv889474	chr7:150705842-150717153	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3918217	ABP1	cis	lymphoblastoid	seeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150707800-150714200	Weak transcription	Dnd41	blood
2	chr7:150710000-150714800	Weak transcription	HUVEC	blood vessel
3	chr7:150710200-150715000	Weak transcription	A549	lung
4	chr7:150710400-150714200	Weak transcription	K562	blood
5	chr7:150710400-150714400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:150711200-150713000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:150711400-150713200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:150711400-150715000	Weak transcription	Pancreas	Pancrea
9	chr7:150711400-150715200	Weak transcription	Gastric	stomach
10	chr7:150711400-150715200	Weak transcription	Right Atrium	heart
11	chr7:150711600-150713000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:150711600-150713200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:150711600-150714400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr7:150711600-150714600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:150711600-150714600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:150711600-150714800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr7:150711600-150715000	Weak transcription	Brain Anterior Caudate	brain
18	chr7:150711600-150715000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:150711600-150715000	Weak transcription	Left Ventricle	heart
20	chr7:150711600-150715200	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:150711600-150715200	Weak transcription	Esophagus	oesophagus
22	chr7:150711600-150716800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:150711800-150713000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr7:150711800-150714000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr7:150711800-150714400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:150711800-150714600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:150711800-150714800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:150712000-150714200	Weak transcription	Fetal Intestine Small	intestine
29	chr7:150712000-150714800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr7:150712200-150713400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:150712200-150714800	Weak transcription	Primary B cells from cord blood	blood
32	chr7:150712200-150714800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:150712400-150713200	Weak transcription	Spleen	Spleen
34	chr7:150712400-150713800	Strong transcription	Placenta	Placenta
35	chr7:150712400-150714200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr7:150712400-150714600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr7:150712400-150714600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr7:150712400-150714800	Enhancers	Primary T cells from cord blood	blood
39	chr7:150712400-150714800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr7:150712600-150713400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr7:150712600-150713800	Weak transcription	Fetal Thymus	thymus
42	chr7:150712600-150714800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:150712600-150714800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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