Variant report

Variant	rs558122025
Chromosome Location	chr7:26237125-26237126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:26231477-26237614	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:26234765-26237399	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:26221696-26237480	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:26234743-26243058	K562	blood:	n/a	n/a
5	POLR2A	chr7:26225813-26242266	Hela-S3	cervix:	n/a	n/a
6	TAF7	chr7:26236676-26237633	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:26234771-26237585	U87	brain:	n/a	n/a
8	CHD1	chr7:26235855-26242752	GM12878	blood:	n/a	n/a
9	HEY1	chr7:26235885-26237530	K562	blood:	n/a	n/a
10	STAT1	chr7:26236747-26237436	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:26236324-26237510	GM12892	blood:	n/a	n/a
12	NFIC	chr7:26236838-26237567	GM12878	blood:	n/a	n/a
13	ATF2	chr7:26236836-26237454	GM12878	blood:	n/a	n/a
14	TBL1XR1	chr7:26236872-26241567	K562	blood:	n/a	n/a
15	POLR2A	chr7:26231544-26237489	GM12892	blood:	n/a	n/a
16	POLR2A	chr7:26236346-26237382	HCT-116	colon:	n/a	n/a
17	POLR2A	chr7:26217417-26242495	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:26236971-26237220	ProgFib	skin:	n/a	n/a
19	BHLHE40	chr7:26236629-26237507	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:26235879-26237147	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr7:26229791-26237535	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:26236801-26237413	GM12891	blood:	n/a	n/a
23	TBP	chr7:26236965-26237474	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:26236343-26237346	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr7:26233946-26237633	SK-N-SH	brain:	n/a	n/a
26	MXI1	chr7:26236746-26242422	K562	blood:	n/a	n/a
27	BCLAF1	chr7:26236532-26237586	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:26235857-26241978	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr7:26219147-26241658	K562	blood:	n/a	n/a
30	POLR2A	chr7:26222589-26243037	K562	blood:	n/a	n/a
31	RUNX3	chr7:26236929-26237518	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:26236807-26237249	HepG2	liver:	n/a	n/a
33	POLR2A	chr7:26234765-26237545	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr7:26236764-26237453	PFSK-1	brain:	n/a	n/a
35	RUNX3	chr7:26236841-26237446	GM12878	blood:	n/a	n/a
36	BRCA1	chr7:26237010-26237128	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAFF	chr7:26236761-26237216	K562	blood:	n/a	n/a
38	POLR2A	chr7:26235298-26237270	GM12892	blood:	n/a	n/a
39	POLR2A	chr7:26221760-26237544	A549	lung:	n/a	n/a
40	POLR2A	chr7:26225919-26237367	K562	blood:	n/a	n/a
41	REST	chr7:26237116-26237374	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr7:26217906-26237432	Hela-S3	cervix:	n/a	n/a
43	NFATC1	chr7:26236829-26237506	GM12878	blood:	n/a	n/a
44	POLR2A	chr7:26236533-26237506	HepG2	liver:	n/a	n/a
45	POLR2A	chr7:26234641-26237639	U87	brain:	n/a	n/a
46	POLR2A	chr7:26235328-26237462	GM12891	blood:	n/a	n/a
47	POLR2A	chr7:26221714-26237502	GM18505	blood:	n/a	n/a
48	EBF1	chr7:26236977-26237413	GM12878	blood:	n/a	n/a
49	POLR2A	chr7:26236520-26237439	GM12892	blood:	n/a	n/a
50	MXI1	chr7:26234540-26244604	SK-N-SH	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26124079..26126684-chr7:26237086..26240273,4	MCF-7	breast:
2	chr7:26172376..26175149-chr7:26236587..26238736,2	MCF-7	breast:
3	chr7:26191444..26193489-chr7:26235586..26237855,2	K562	blood:
4	chr7:26237070..26238753-chr7:26328239..26331209,2	MCF-7	breast:

No data

Variant related genes	Relation type
CBX3	TF binding region
HNRNPA2B1	TF binding region
ENSG00000050344	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv887850	chr7:26236235-26244365	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
4	nsv887851	chr7:26236235-26248965	Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
5	nsv606459	chr7:26236933-26243108	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	139 gene(s)	inside rSNPs	n/a
6	nsv887852	chr7:26236933-26244365	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
7	nsv887853	chr7:26236933-26248965	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26230200-26237200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
2	chr7:26231600-26239600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr7:26231800-26239600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:26232000-26237600	Genic enhancers	Fetal Heart	heart
5	chr7:26232200-26237200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
6	chr7:26232400-26237400	Transcr. at gene 5' and 3'	A549	lung
7	chr7:26233200-26239600	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr7:26233400-26237200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
9	chr7:26233400-26242800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:26234000-26237600	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:26234200-26240400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
12	chr7:26234400-26237600	Strong transcription	Placenta	Placenta
13	chr7:26234400-26238000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:26234600-26237400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr7:26234600-26238200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:26234600-26238200	Weak transcription	Gastric	stomach
17	chr7:26234800-26237200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
18	chr7:26234800-26237400	Transcr. at gene 5' and 3'	NHLF	lung
19	chr7:26234800-26237600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:26234800-26237600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:26234800-26239200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
22	chr7:26234800-26239400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
23	chr7:26234800-26239400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:26234800-26240000	Active TSS	Right Atrium	heart
25	chr7:26234800-26240200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
26	chr7:26235000-26237200	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
27	chr7:26235000-26237200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:26235000-26237400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
29	chr7:26235000-26237400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:26235000-26237400	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
31	chr7:26235000-26237400	Transcr. at gene 5' and 3'	HMEC	breast
32	chr7:26235000-26238200	Weak transcription	Small Intestine	intestine
33	chr7:26235000-26239400	Transcr. at gene 5' and 3'	K562	blood
34	chr7:26235000-26239600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
35	chr7:26235000-26239600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
36	chr7:26235200-26237200	Genic enhancers	Rectal Mucosa Donor 31	rectum
37	chr7:26235400-26237200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
38	chr7:26235400-26237200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
39	chr7:26235400-26237200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
40	chr7:26235400-26237400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:26235400-26237400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
42	chr7:26235400-26237400	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
43	chr7:26235400-26237600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:26235400-26237600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:26235600-26237400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:26235600-26237400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
47	chr7:26235600-26237400	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
48	chr7:26235600-26238400	Weak transcription	Spleen	Spleen
49	chr7:26235600-26239400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
50	chr7:26235800-26237200	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet

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