Variant report

Variant	rs532100864
Chromosome Location	chr1:9748841-9748842
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	chr1:9748766-9748883	K562	blood:	n/a	n/a
2	PML	chr1:9748622-9749373	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:9746782-9749522	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:9748284-9749469	GM12891	blood:	n/a	n/a
5	STAT5A	chr1:9748612-9749274	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:9748813-9748883	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:9748730-9749343	GM12892	blood:	n/a	n/a
8	POLR2A	chr1:9748769-9748858	MCF-7	breast:	n/a	n/a
9	MTA3	chr1:9746916-9749522	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:9748648-9749499	GM12892	blood:	n/a	n/a
11	STAT5A	chr1:9748535-9749529	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:9748779-9749125	GM12878	blood:	n/a	n/a
13	MAZ	chr1:9746682-9751668	IMR90	lung:	n/a	chr1:9747639-9747648 chr1:9749944-9749954 chr1:9747642-9747652
14	POLR2A	chr1:9748723-9749184	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:9713945..9716849-chr1:9747887..9749463,2	K562	blood:
2	chr1:9692182..9693930-chr1:9748451..9750202,2	K562	blood:
3	chr1:9745914..9747829-chr1:9748443..9751067,2	K562	blood:
4	chr1:9746655..9749475-chr1:9776621..9778385,2	K562	blood:
5	chr1:9712578..9717626-chr1:9745796..9749976,6	K562	blood:
6	chr1:9748418..9751556-chr1:9755069..9757789,4	K562	blood:
7	chr1:9746141..9751802-chr1:9775034..9783332,13	K562	blood:

Variant related genes	Relation type
ENSG00000231789	TF binding region
ENSG00000171608	Chromatin interaction
ENSG00000231789	Chromatin interaction
ENSG00000179840	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	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS 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	15 gene(s)	inside rSNPs	diseases
5	esv3408612	chr1:9748390-9751238	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3426414	chr1:9748415-9751113	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3424708	chr1:9748735-9771466	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9746800-9749400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:9746800-9750600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:9747000-9749200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr1:9747000-9749200	Flanking Active TSS	NHEK	skin
5	chr1:9747000-9749400	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr1:9747000-9749400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:9747000-9749400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr1:9747000-9749400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:9747000-9749400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr1:9747000-9749400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr1:9747000-9749400	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr1:9747000-9749400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr1:9747000-9749400	Flanking Active TSS	NH-A	brain
14	chr1:9747000-9750400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:9747000-9750400	Active TSS	HSMM	muscle
16	chr1:9747000-9751200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr1:9747200-9749000	Enhancers	Spleen	Spleen
18	chr1:9747200-9749400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:9747200-9749400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:9747200-9749400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:9747200-9749400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
22	chr1:9747200-9749400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr1:9747200-9749400	Flanking Active TSS	HMEC	breast
24	chr1:9747200-9750400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr1:9747200-9750400	Active TSS	Aorta	Aorta
26	chr1:9747200-9750600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:9747400-9749200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:9747400-9750200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:9747600-9749400	Flanking Active TSS	Thymus	Thymus
30	chr1:9747800-9749000	Enhancers	Lung	lung
31	chr1:9747800-9749200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:9747800-9749400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:9747800-9749400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:9747800-9749400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:9747800-9749400	Flanking Active TSS	GM12878-XiMat	blood
36	chr1:9747800-9750400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr1:9748000-9749000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:9748000-9749000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:9748000-9749200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr1:9748000-9749200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr1:9748000-9749200	Flanking Bivalent TSS/Enh	HepG2	liver
42	chr1:9748000-9749200	Flanking Active TSS	K562	blood
43	chr1:9748000-9749400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:9748000-9749400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr1:9748000-9749400	Bivalent Enhancer	Fetal Brain Male	brain
46	chr1:9748000-9749400	Flanking Active TSS	Osteobl	bone
47	chr1:9748200-9749000	Genic enhancers	Primary monocytes fromperipheralblood	blood
48	chr1:9748200-9749000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
49	chr1:9748200-9749000	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:9748200-9749000	Bivalent Enhancer	Placenta	Placenta

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