Variant report

Variant	rs566218467
Chromosome Location	chr7:11148697-11148698
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	chr7:11148313-11148729	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
PHF14	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv1030035	chr7:11027819-11256089	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv887602	chr7:11071993-11220846	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv428162	chr7:11085784-11359333	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
14	nsv830901	chr7:11093455-11272219	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv916426	chr7:11095057-11201696	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv887603	chr7:11104985-11231727	Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
17	nsv1025368	chr7:11124528-11162451	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
18	nsv1026282	chr7:11124528-11163828	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
19	nsv1031075	chr7:11136339-11187167	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
20	nsv606195	chr7:11140383-11216782	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
21	nsv606196	chr7:11144030-11255948	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
22	nsv1029654	chr7:11147593-11263834	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
23	nsv538731	chr7:11147593-11263834	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11046200-11175000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:11046600-11167800	Weak transcription	Thymus	Thymus
3	chr7:11057800-11190200	Weak transcription	Fetal Brain Male	brain
4	chr7:11076400-11193200	Weak transcription	Ovary	ovary
5	chr7:11077000-11162400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:11091800-11174200	Weak transcription	Left Ventricle	heart
7	chr7:11094600-11153400	Weak transcription	Hela-S3	cervix
8	chr7:11102200-11189200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:11102400-11167800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:11102600-11161000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:11102600-11173200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:11102600-11173400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr7:11102600-11190400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:11103000-11189000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr7:11107600-11152800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr7:11107600-11212200	Weak transcription	Fetal Kidney	kidney
17	chr7:11107800-11161000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:11113200-11211800	Weak transcription	Fetal Intestine Large	intestine
19	chr7:11113600-11166600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:11113800-11155600	Weak transcription	Brain Germinal Matrix	brain
21	chr7:11114600-11210000	Weak transcription	Fetal Brain Female	brain
22	chr7:11118000-11199000	Weak transcription	HSMM	muscle
23	chr7:11122800-11153400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:11122800-11169800	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:11122800-11173000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:11123000-11161000	Weak transcription	HSMMtube	muscle
27	chr7:11123000-11163000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:11123000-11173200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:11123000-11177800	Weak transcription	HepG2	liver
30	chr7:11123200-11155800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:11123400-11169800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:11123600-11161000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:11124800-11151000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:11125000-11162200	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:11125400-11188000	Weak transcription	Small Intestine	intestine
36	chr7:11125800-11167000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:11129600-11154200	Weak transcription	Fetal Lung	lung
38	chr7:11132200-11155800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:11133600-11151000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:11134200-11154400	Weak transcription	Primary T cells from cord blood	blood
41	chr7:11134800-11166600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:11135200-11155800	Weak transcription	Adipose Nuclei	Adipose
43	chr7:11135400-11150800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:11136000-11150800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:11136000-11155800	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:11136200-11150800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr7:11138800-11169400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr7:11140800-11162000	Weak transcription	NH-A	brain
49	chr7:11140800-11167000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:11141000-11173400	Weak transcription	NHEK	skin

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