Variant report

Variant	rs564419880
Chromosome Location	chr7:26243437-26243438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr7:26243356-26243508	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:26241874-26244447	K562	blood:	n/a	n/a
3	POLR2A	chr7:26243375-26243476	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:26237697-26244169	K562	blood:	n/a	n/a
5	TBL1XR1	chr7:26243278-26244330	K562	blood:	n/a	n/a
6	MXI1	chr7:26234540-26244604	SK-N-SH	brain:	n/a	n/a
7	CHD1	chr7:26234064-26243804	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:26243433-26243511	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:26243318-26243723	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr7:26243217-26243590	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:26243405-26243454	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:26243390-26244242	MCF10A-Er-Src	breast:	n/a	n/a
13	HEY1	chr7:26243246-26243653	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26096714..26102069-chr7:26240159..26243560,6	MCF-7	breast:
2	chr20:61273225..61273955-chr7:26243356..26243856,2	Hela-S3	cervix:
3	chr7:26238789..26244149-chr7:26328226..26335284,15	MCF-7	breast:
4	chr12:46766153..46766956-chr7:26243095..26243758,2	NB4	blood:
5	chr7:26134161..26136379-chr7:26242320..26244096,2	K562	blood:
6	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:

No data

Variant related genes	Relation type
HNRNPA2B1	TF binding region
CBX3	TF binding region
ENSG00000086300	Chromatin interaction
ENSG00000050344	Chromatin interaction
ENSG00000101187	Chromatin interaction
ENSG00000266430	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
6	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
7	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
8	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
9	esv3440481	chr7:26242638-26245990	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
10	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26236200-26245200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:26236600-26243600	Active TSS	Right Ventricle	heart
3	chr7:26237000-26243600	Active TSS	Aorta	Aorta
4	chr7:26237000-26244400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:26237000-26245400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:26237200-26244000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:26237200-26244400	Active TSS	Fetal Intestine Small	intestine
8	chr7:26237200-26244800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:26237200-26245000	Active TSS	Thymus	Thymus
10	chr7:26237400-26244000	Active TSS	Duodenum Mucosa	Duodenum
11	chr7:26237400-26244000	Active TSS	Fetal Intestine Large	intestine
12	chr7:26237400-26244200	Active TSS	Fetal Stomach	stomach
13	chr7:26237400-26244200	Active TSS	Psoas Muscle	Psoas
14	chr7:26237400-26244600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr7:26237400-26244600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:26237400-26244800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:26237600-26243800	Active TSS	HSMMtube	muscle
18	chr7:26239000-26243600	Active TSS	Primary T cells fromperipheralblood	blood
19	chr7:26239000-26244000	Active TSS	HMEC	breast
20	chr7:26239200-26244000	Active TSS	Fetal Thymus	thymus
21	chr7:26239200-26244000	Active TSS	NHDF-Ad	bronchial
22	chr7:26239400-26244000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:26239400-26244000	Active TSS	Hela-S3	cervix
24	chr7:26239400-26244600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:26239400-26244800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:26241600-26244000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:26242000-26245200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:26242000-26246200	Transcr. at gene 5' and 3'	Dnd41	blood
29	chr7:26242200-26244000	Weak transcription	Spleen	Spleen
30	chr7:26242200-26244200	Flanking Active TSS	Liver	Liver
31	chr7:26242200-26244400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr7:26242200-26244400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr7:26242200-26244600	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr7:26242200-26244800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:26242200-26245000	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr7:26242200-26245400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:26242400-26243800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr7:26242400-26244000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr7:26242400-26244400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:26242400-26245000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr7:26242400-26245000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:26242400-26245400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:26242400-26245400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
44	chr7:26242400-26245600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
45	chr7:26242400-26246000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
46	chr7:26242400-26249400	Weak transcription	Stomach Mucosa	stomach
47	chr7:26242600-26243600	Flanking Active TSS	Fetal Brain Male	brain
48	chr7:26242600-26243800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr7:26242600-26243800	Transcr. at gene 5' and 3'	NH-A	brain
50	chr7:26242600-26244000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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