Variant report

Variant	rs1429092
Chromosome Location	chr7:26237552-26237553
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

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	chr7:26237178-26237584	K562	blood:	n/a	n/a
3	POLR2A	chr7:26234743-26243058	K562	blood:	n/a	n/a
4	POLR2A	chr7:26225813-26242266	Hela-S3	cervix:	n/a	n/a
5	TAF7	chr7:26236676-26237633	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:26234771-26237585	U87	brain:	n/a	n/a
7	CHD1	chr7:26235855-26242752	GM12878	blood:	n/a	n/a
8	ELK1	chr7:26237400-26238796	K562	blood:	n/a	n/a
9	NFIC	chr7:26236838-26237567	GM12878	blood:	n/a	n/a
10	TBL1XR1	chr7:26236872-26241567	K562	blood:	n/a	n/a
11	POLR2A	chr7:26217417-26242495	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:26233946-26237633	SK-N-SH	brain:	n/a	n/a
13	MXI1	chr7:26236746-26242422	K562	blood:	n/a	n/a
14	BCLAF1	chr7:26236532-26237586	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:26235857-26241978	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr7:26219147-26241658	K562	blood:	n/a	n/a
17	POLR2A	chr7:26222589-26243037	K562	blood:	n/a	n/a
18	EP300	chr7:26237131-26241553	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:26234641-26237639	U87	brain:	n/a	n/a
20	SMC3	chr7:26237501-26238343	GM12878	blood:	n/a	n/a
21	MXI1	chr7:26234540-26244604	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr7:26225898-26242757	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr7:26235411-26237583	H1-hESC	embryonic stem cell:	n/a	n/a
24	MXI1	chr7:26235358-26237607	GM12878	blood:	n/a	n/a
25	CHD1	chr7:26234064-26243804	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF143	chr7:26237436-26238218	K562	blood:	n/a	n/a
27	POLR2A	chr7:26225913-26237582	K562	blood:	n/a	n/a
28	POLR2A	chr7:26221753-26237645	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr7:26234750-26237667	PANC-1	pancreas:	n/a	n/a
30	ARID3A	chr7:26237364-26238112	HepG2	liver:	n/a	n/a
31	PML	chr7:26236686-26237567	GM12878	blood:	n/a	n/a
32	TBL1XR1	chr7:26236844-26242113	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:26234715-26237645	U87	brain:	n/a	n/a
34	CTCF	chr7:26237420-26237570	AG10803	skin:	n/a	n/a
35	CUX1	chr7:26236765-26237906	GM12878	blood:	n/a	n/a
36	SP1	chr7:26237144-26237561	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr7:26237520-26237670	AG04450	lung:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26124079..26126684-chr7:26237086..26240273,4	MCF-7	breast:
2	chr7:26185994..26190276-chr7:26237355..26239722,4	K562	blood:
3	chr7:25897759..25900219-chr7:26237473..26240299,2	MCF-7	breast:
4	chr7:26172376..26175149-chr7:26236587..26238736,2	MCF-7	breast:
5	chr7:26237378..26238939-chr7:26305389..26307516,2	K562	blood:
6	chr10:90595173..90596030-chr7:26237548..26238302,2	MCF-7	breast:
7	chr7:26121029..26121778-chr7:26237338..26237969,2	MCF-7	breast:
8	chr7:26191444..26193489-chr7:26235586..26237855,2	K562	blood:
9	chr7:26237070..26238753-chr7:26328239..26331209,2	MCF-7	breast:
10	chr7:26184609..26187599-chr7:26237249..26239086,2	K562	blood:
11	chr11:76155248..76156126-chr7:26237373..26238334,2	Hela-S3	cervix:
12	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:

No data

Variant related genes	Relation type
HNRNPA2B1	TF binding region
CBX3	TF binding region
ENSG00000255135	Chromatin interaction
ENSG00000158636	Chromatin interaction
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	chr7:26231600-26239600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr7:26231800-26239600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:26232000-26237600	Genic enhancers	Fetal Heart	heart
4	chr7:26233200-26239600	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr7:26233400-26242800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:26234000-26237600	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:26234200-26240400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
8	chr7:26234400-26237600	Strong transcription	Placenta	Placenta
9	chr7:26234400-26238000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:26234600-26238200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:26234600-26238200	Weak transcription	Gastric	stomach
12	chr7:26234800-26237600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:26234800-26237600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:26234800-26239200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
15	chr7:26234800-26239400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
16	chr7:26234800-26239400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:26234800-26240000	Active TSS	Right Atrium	heart
18	chr7:26234800-26240200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
19	chr7:26235000-26238200	Weak transcription	Small Intestine	intestine
20	chr7:26235000-26239400	Transcr. at gene 5' and 3'	K562	blood
21	chr7:26235000-26239600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
22	chr7:26235000-26239600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
23	chr7:26235400-26237600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:26235400-26237600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:26235600-26238400	Weak transcription	Spleen	Spleen
26	chr7:26235600-26239400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
27	chr7:26236000-26237600	Transcr. at gene 5' and 3'	Hela-S3	cervix
28	chr7:26236000-26238200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:26236000-26239200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
30	chr7:26236000-26239400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:26236000-26239400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:26236000-26239400	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:26236200-26238000	Weak transcription	Lung	lung
34	chr7:26236200-26238200	Weak transcription	Esophagus	oesophagus
35	chr7:26236200-26245200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:26236400-26237600	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
37	chr7:26236400-26237600	Transcr. at gene 5' and 3'	Osteobl	bone
38	chr7:26236400-26239200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
39	chr7:26236600-26237600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr7:26236600-26237600	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:26236600-26239000	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:26236600-26239000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
43	chr7:26236600-26239400	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
44	chr7:26236600-26243600	Active TSS	Right Ventricle	heart
45	chr7:26236800-26237600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:26236800-26237600	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
47	chr7:26236800-26239400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
48	chr7:26236800-26239400	Transcr. at gene 5' and 3'	Fetal Lung	lung
49	chr7:26236800-26242600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:26237000-26237600	Flanking Active TSS	Primary hematopoietic stem cells	blood

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