Variant report

Variant	rs572899815
Chromosome Location	chr1:62207162-62207163
allele	A/C
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	chr1:62207121-62209260	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:62207072-62209265	H1-hESC	embryonic stem cell:	n/a	n/a
3	GTF3C2	chr1:62206704-62207338	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:62207110-62207195	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:62173080..62176930-chr1:62205875..62209587,4	MCF-7	breast:
2	chr1:62188914..62195188-chr1:62202056..62212232,19	MCF-7	breast:
3	chr1:62207014..62208687-chr8:103424188..103425708,2	MCF-7	breast:
4	chr1:62187463..62192137-chr1:62206143..62210486,9	MCF-7	breast:

Variant related genes	Relation type
INADL	TF binding region
ENSG00000162604	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	28 gene(s)	inside rSNPs	diseases
2	esv3422069	chr1:62206889-62209737	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62191400-62207400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:62202200-62207200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:62202200-62207200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:62202200-62207200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:62202400-62207200	Weak transcription	Primary T cells from cord blood	blood
6	chr1:62202400-62207200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:62202400-62207200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:62202600-62207200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:62204800-62207400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:62205600-62207800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:62206200-62207200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:62206200-62207400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:62206400-62207200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:62206400-62207200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:62206400-62207200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:62206400-62207200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr1:62206400-62207600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:62206600-62207400	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:62206600-62207400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:62206600-62207600	Flanking Active TSS	Hela-S3	cervix
21	chr1:62206800-62207200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:62206800-62207200	Enhancers	Esophagus	oesophagus
23	chr1:62206800-62207200	Enhancers	Pancreas	Pancrea
24	chr1:62206800-62207200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr1:62206800-62207400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:62206800-62207400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:62206800-62207400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:62206800-62207600	Enhancers	Small Intestine	intestine
29	chr1:62206800-62208000	Bivalent/Poised TSS	HepG2	liver
30	chr1:62207000-62207200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:62207000-62207200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:62207000-62207200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:62207000-62207200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:62207000-62207200	Enhancers	Brain Hippocampus Middle	brain
35	chr1:62207000-62207200	Enhancers	Colon Smooth Muscle	Colon
36	chr1:62207000-62207200	Enhancers	Duodenum Mucosa	Duodenum
37	chr1:62207000-62207200	Enhancers	Fetal Brain Male	brain
38	chr1:62207000-62207200	Enhancers	Fetal Kidney	kidney
39	chr1:62207000-62207200	Enhancers	Fetal Lung	lung
40	chr1:62207000-62207200	Enhancers	Rectal Smooth Muscle	rectum
41	chr1:62207000-62207200	Enhancers	A549	lung
42	chr1:62207000-62207200	Enhancers	GM12878-XiMat	blood
43	chr1:62207000-62207200	Enhancers	HMEC	breast
44	chr1:62207000-62207200	Active TSS	NHEK	skin
45	chr1:62207000-62207400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr1:62207000-62207600	Bivalent Enhancer	Fetal Thymus	thymus
47	chr1:62207000-62209800	Active TSS	HUES6 Cell Line	embryonic stem cell

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