Variant report

Variant	rs10227726
Chromosome Location	chr7:39993073-39993074
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	KAP1	chr7:39992776-39993757	K562	blood:	n/a	n/a
2	POLR2A	chr7:39990966-39993370	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr7:39991082-39993478	Hela-S3	cervix:	n/a	chr7:39992576-39992587 chr7:39992576-39992589 chr7:39992971-39992982
4	POLR2A	chr7:39987858-39993456	GM12878	blood:	n/a	n/a
5	MXI1	chr7:39987517-39993787	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:39992254..39999333-chr7:39999543..40002599,8	K562	blood:
2	chr7:39992705..39994767-chr7:40040920..40043283,2	K562	blood:
3	chr7:39992179..39995720-chr7:40011134..40014847,3	K562	blood:
4	chr7:39991743..39994324-chr7:40009939..40012634,2	K562	blood:

Variant related genes	Relation type
ENSG00000259826	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs758695	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39987800-39993200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:39987800-39993400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:39988000-39993200	Active TSS	HSMM	muscle
4	chr7:39988000-39993400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:39988000-39993400	Active TSS	Osteobl	bone
6	chr7:39988000-39993600	Active TSS	Colonic Mucosa	Colon
7	chr7:39988000-39993800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr7:39988000-39993800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:39988000-39994000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:39988200-39993200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:39988200-39993200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr7:39988200-39993200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:39988200-39993200	Active TSS	Muscle Satellite Cultured Cells	--
14	chr7:39988200-39993200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:39988200-39993200	Active TSS	Colon Smooth Muscle	Colon
16	chr7:39988200-39993200	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr7:39988200-39993200	Active TSS	A549	lung
18	chr7:39988200-39993200	Active TSS	K562	blood
19	chr7:39988200-39993200	Active TSS	NH-A	brain
20	chr7:39988200-39993200	Active TSS	NHDF-Ad	bronchial
21	chr7:39988200-39993400	Active TSS	Aorta	Aorta
22	chr7:39988200-39993400	Active TSS	Psoas Muscle	Psoas
23	chr7:39988200-39993400	Active TSS	Right Ventricle	heart
24	chr7:39988200-39993600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr7:39988200-39993800	Active TSS	H1 Cell Line	embryonic stem cell
26	chr7:39988200-39996200	Active TSS	GM12878-XiMat	blood
27	chr7:39988400-39993200	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr7:39988400-39993200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:39988400-39993200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr7:39988400-39993200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:39988400-39993200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:39988400-39993200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:39988400-39993200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr7:39988400-39993200	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr7:39988400-39993200	Active TSS	Duodenum Mucosa	Duodenum
36	chr7:39988400-39993200	Active TSS	Fetal Intestine Large	intestine
37	chr7:39988400-39993200	Active TSS	Fetal Intestine Small	intestine
38	chr7:39988400-39993200	Active TSS	Fetal Kidney	kidney
39	chr7:39988400-39993200	Active TSS	Fetal Muscle Leg	muscle
40	chr7:39988400-39993200	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr7:39988400-39993200	Active TSS	HMEC	breast
42	chr7:39988400-39993200	Active TSS	NHEK	skin
43	chr7:39988400-39993400	Active TSS	Primary T cells fromperipheralblood	blood
44	chr7:39988400-39993800	Active TSS	HSMMtube	muscle
45	chr7:39988400-39994200	Active TSS	NHLF	lung
46	chr7:39988600-39993200	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr7:39988600-39993200	Active TSS	Ovary	ovary
48	chr7:39990200-39993600	Active TSS	Stomach Smooth Muscle	stomach
49	chr7:39991000-39993600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr7:39991000-39993600	Flanking Active TSS	Primary B cells from cord blood	blood

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