Variant report

Variant	rs6944935
Chromosome Location	chr7:150726920-150726921
allele	C/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	MXI1	chr7:150724840-150727131	IMR90	lung:	n/a	chr7:150726951-150726960

No.	Distal block	Cell Line	Cell type
1	chr7:150725439..150727092-chr7:150922758..150925738,2	K562	blood:
2	chr7:150673570..150675827-chr7:150725848..150727398,2	MCF-7	breast:
3	chr7:150712297..150714427-chr7:150725298..150727101,2	MCF-7	breast:

Variant related genes	Relation type
ABCB8	TF binding region
ENSG00000243433	TF binding region
ENSG00000055118	Chromatin interaction
ENSG00000181652	Chromatin interaction
ENSG00000033050	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12539332	0.89[ASN][1000 genomes]
rs2116023	0.92[ASN][1000 genomes]
rs2303922	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2303924	0.94[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs2303926	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373927	0.93[ASN][1000 genomes]
rs35900662	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148848	0.94[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs61218626	0.92[ASN][1000 genomes]
rs6944859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6947821	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6944935	ABCB8	cis	cerebellum	SCAN
rs6944935	ABCF2	cis	cerebellum	SCAN
rs6944935	ABCB8	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150725000-150727000	Active TSS	HSMM	muscle
2	chr7:150726000-150727000	Flanking Active TSS	Dnd41	blood
3	chr7:150726000-150730000	Weak transcription	Gastric	stomach
4	chr7:150726200-150727000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:150726200-150727000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:150726200-150727000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr7:150726200-150727000	Enhancers	Primary B cells from peripheral blood	blood
8	chr7:150726200-150727000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr7:150726200-150727000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:150726200-150727000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:150726200-150727000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:150726200-150727000	Enhancers	Liver	Liver
13	chr7:150726200-150727000	Enhancers	Left Ventricle	heart
14	chr7:150726200-150727200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr7:150726200-150728400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:150726200-150731800	Weak transcription	Aorta	Aorta
17	chr7:150726200-150735800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:150726400-150727000	Enhancers	Primary T cells from cord blood	blood
19	chr7:150726400-150727000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:150726400-150727000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr7:150726400-150727000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:150726400-150727000	Enhancers	Brain Cingulate Gyrus	brain
23	chr7:150726400-150727000	Enhancers	Brain Substantia Nigra	brain
24	chr7:150726400-150727000	Enhancers	Colon Smooth Muscle	Colon
25	chr7:150726400-150727000	Enhancers	Esophagus	oesophagus
26	chr7:150726400-150727000	Enhancers	Fetal Intestine Small	intestine
27	chr7:150726400-150727000	Enhancers	Fetal Muscle Trunk	muscle
28	chr7:150726400-150727000	Enhancers	Fetal Muscle Leg	muscle
29	chr7:150726400-150727000	Enhancers	Fetal Stomach	stomach
30	chr7:150726400-150727000	Enhancers	Fetal Thymus	thymus
31	chr7:150726400-150727000	Enhancers	Lung	lung
32	chr7:150726400-150727000	Enhancers	Pancreas	Pancrea
33	chr7:150726400-150727000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr7:150726400-150727000	Enhancers	NH-A	brain
35	chr7:150726400-150727200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr7:150726400-150727200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:150726400-150727200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr7:150726400-150727200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr7:150726400-150727200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr7:150726400-150727200	Enhancers	Fetal Lung	lung
41	chr7:150726400-150727200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr7:150726400-150727200	Enhancers	Stomach Mucosa	stomach
43	chr7:150726400-150727200	Flanking Active TSS	K562	blood
44	chr7:150726400-150727200	Enhancers	Osteobl	bone
45	chr7:150726400-150727400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr7:150726400-150727400	Enhancers	Brain Anterior Caudate	brain
47	chr7:150726400-150727400	Enhancers	Brain Hippocampus Middle	brain
48	chr7:150726400-150728200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:150726400-150728200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:150726400-150728200	Enhancers	Placenta	Placenta

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