Variant report

Variant	rs543522649
Chromosome Location	chr7:26246707-26246708
allele	C/T
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	GATA3	chr7:26246577-26246998	SH-SY5Y	brain:	n/a	chr7:26246707-26246717 chr7:26246710-26246719 chr7:26246708-26246720 chr7:26246709-26246719 chr7:26246706-26246722
2	POLR2A	chr7:26246447-26246975	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr7:26246561-26246934	GM12892	blood:	n/a	n/a
4	POLR2A	chr7:26246537-26247024	GM12892	blood:	n/a	n/a
5	POLR2A	chr7:26246707-26246800	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr7:26246392-26248135	K562	blood:	n/a	n/a
7	POLR2A	chr7:26246650-26246886	K562	blood:	n/a	n/a
8	GATA2	chr7:26246672-26246939	SH-SY5Y	brain:	n/a	chr7:26246707-26246717 chr7:26246710-26246719 chr7:26246708-26246720 chr7:26246709-26246719 chr7:26246706-26246722

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26245433..26248011-chr7:26331906..26333789,2	K562	blood:
2	chr7:26245933..26247865-chr7:26330832..26332898,2	MCF-7	breast:

Variant related genes	Relation type
CBX3	TF binding region
ENSG00000086300	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
4	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
5	nsv887854	chr7:26238100-26248965	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	136 gene(s)	inside rSNPs	n/a
6	esv3376986	chr7:26242542-26248102	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	esv1821097	chr7:26243108-26303403	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	esv3370996	chr7:26245979-26248143	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	esv2390496	chr7:26245997-26248123	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	esv3401528	chr7:26246007-26248099	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
11	esv3328783	chr7:26246036-26248103	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
12	esv3400312	chr7:26246072-26248062	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26242400-26249400	Weak transcription	Stomach Mucosa	stomach
2	chr7:26242600-26247200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:26242600-26247200	Weak transcription	Lung	lung
4	chr7:26242600-26249200	Weak transcription	Gastric	stomach
5	chr7:26242600-26249400	Weak transcription	Esophagus	oesophagus
6	chr7:26242800-26254000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:26243600-26249400	Weak transcription	Aorta	Aorta
8	chr7:26244200-26247200	Weak transcription	Psoas Muscle	Psoas
9	chr7:26244200-26250000	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:26244400-26246800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:26244400-26247000	Weak transcription	Spleen	Spleen
12	chr7:26244400-26248800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:26244400-26249200	Weak transcription	Brain Substantia Nigra	brain
14	chr7:26244400-26251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:26244400-26271400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:26244800-26254200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr7:26245000-26247000	Genic enhancers	Primary T cells from cord blood	blood
18	chr7:26245000-26248000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
19	chr7:26245000-26248800	Weak transcription	Brain Anterior Caudate	brain
20	chr7:26245200-26246800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr7:26245200-26252800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:26245400-26246800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:26245400-26246800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:26245400-26246800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:26245400-26250600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:26245400-26250800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:26245400-26252200	Strong transcription	Fetal Lung	lung
28	chr7:26245400-26252800	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr7:26245400-26252800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr7:26245400-26252800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:26245400-26252800	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr7:26245400-26253000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:26245400-26253000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:26245400-26253200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:26245400-26253200	Strong transcription	HSMM	muscle
36	chr7:26245400-26253600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:26245600-26246800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:26245600-26246800	Genic enhancers	Brain Germinal Matrix	brain
39	chr7:26245600-26246800	Genic enhancers	K562	blood
40	chr7:26245600-26247200	Weak transcription	Small Intestine	intestine
41	chr7:26245600-26247600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
42	chr7:26245600-26247800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:26245600-26248000	Genic enhancers	HUVEC	blood vessel
44	chr7:26245600-26250200	Strong transcription	Colonic Mucosa	Colon
45	chr7:26245600-26251800	Strong transcription	Fetal Muscle Leg	muscle
46	chr7:26245600-26251800	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:26245600-26253000	Strong transcription	Fetal Intestine Large	intestine
48	chr7:26245600-26253200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:26245600-26253600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:26245600-26253600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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