Variant report

Variant	rs4148844
Chromosome Location	chr7:150730999-150731000
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	chr7:150730822-150731159	K562	blood:	n/a	n/a

Variant related genes	Relation type
ABCB8	TF binding region
ENSG00000243433	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2069450	0.90[EUR][1000 genomes]
rs2069454	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes]
rs3763487	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4148843	0.89[AMR][1000 genomes]
rs4148851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56198402	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60368017	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61741011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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	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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv889475	chr7:150729212-150742700	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
13	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150726200-150731800	Weak transcription	Aorta	Aorta
2	chr7:150726200-150735800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:150726400-150731400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:150726400-150731400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:150726400-150731600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:150726400-150731600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:150726400-150731800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:150726400-150732000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:150726400-150735800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:150726400-150736600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:150726400-150743600	Weak transcription	Fetal Kidney	kidney
12	chr7:150726400-150744200	Weak transcription	Right Atrium	heart
13	chr7:150726400-150745000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:150726600-150731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:150726600-150731000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:150726600-150731400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:150726600-150731400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:150726600-150731400	Weak transcription	HSMMtube	muscle
19	chr7:150726600-150731800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:150726600-150731800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:150726600-150731800	Weak transcription	Primary B cells from cord blood	blood
22	chr7:150726600-150731800	Weak transcription	Small Intestine	intestine
23	chr7:150726600-150731800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr7:150726600-150733000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:150726600-150735800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:150726600-150736000	Weak transcription	Fetal Heart	heart
27	chr7:150726600-150736000	Weak transcription	HepG2	liver
28	chr7:150726600-150736200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:150726600-150745400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:150726800-150735000	Weak transcription	NHDF-Ad	bronchial
31	chr7:150727000-150731000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr7:150727000-150731000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:150727000-150731000	Weak transcription	Brain Substantia Nigra	brain
34	chr7:150727000-150731000	Weak transcription	Pancreas	Pancrea
35	chr7:150727000-150731000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:150727000-150731400	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:150727000-150731600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr7:150727000-150731600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:150727000-150731600	Weak transcription	Psoas Muscle	Psoas
40	chr7:150727000-150731800	Weak transcription	Left Ventricle	heart
41	chr7:150727000-150731800	Weak transcription	HMEC	breast
42	chr7:150727000-150733400	Weak transcription	NH-A	brain
43	chr7:150727000-150735600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:150727000-150735600	Weak transcription	HUVEC	blood vessel
45	chr7:150727000-150746400	Weak transcription	Fetal Brain Male	brain
46	chr7:150727200-150731200	Weak transcription	Osteobl	bone
47	chr7:150727200-150731600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:150727200-150731800	Weak transcription	A549	lung
49	chr7:150727200-150732000	Weak transcription	Fetal Lung	lung
50	chr7:150727200-150733400	Weak transcription	Hela-S3	cervix

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