Variant report

Variant	rs560988825
Chromosome Location	chr1:151810581-151810582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151810552-151810801	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr1:151810384-151810903	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr1:151810372-151810888	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:151810530-151811078	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr1:151810458-151811711	H1-hESC	embryonic stem cell:	n/a	n/a
6	PAX5	chr1:151810576-151810909	GM12892	blood:	n/a	n/a
7	MAX	chr1:151810520-151811502	GM12878	blood:	n/a	n/a
8	MAX	chr1:151810349-151811698	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr1:151810169-151812785	H1-hESC	embryonic stem cell:	n/a	chr1:151811992-151812003 chr1:151812264-151812273 chr1:151811542-151811551
10	ELF1	chr1:151810413-151811645	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:151510584..151515702-chr1:151808389..151812312,7	MCF-7	breast:
2	chr1:151735784..151737318-chr1:151808411..151810675,2	MCF-7	breast:
3	chr1:151509575..151514119-chr1:151809649..151812293,5	MCF-7	breast:
4	chr1:151804539..151806807-chr1:151808292..151812161,4	K562	blood:
5	chr1:19410890..19413871-chr1:151808457..151811077,2	MCF-7	breast:
6	chr1:151808355..151810594-chr1:151852540..151855427,2	MCF-7	breast:
7	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
8	chr1:151717253..151722089-chr1:151808382..151812448,4	MCF-7	breast:
9	chr1:151764210..151765820-chr1:151809530..151811612,2	MCF-7	breast:
10	chr1:151430044..151432386-chr1:151809146..151811411,2	MCF-7	breast:
11	chr1:151795525..151798477-chr1:151809091..151811611,2	MCF-7	breast:
12	chr1:151809368..151811108-chr1:151856031..151858705,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234614	TF binding region
ENSG00000143450	Chromatin interaction
ENSG00000206980	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000232536	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516369	chr1:151780177-151820324	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1804657	chr1:151784152-151825756	Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv3360539	chr1:151809753-151812301	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151802800-151811000	Enhancers	Placenta	Placenta
2	chr1:151804400-151810600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:151804600-151812000	Enhancers	Pancreas	Pancrea
4	chr1:151805200-151810600	Enhancers	Dnd41	blood
5	chr1:151805600-151811200	Weak transcription	Brain Angular Gyrus	brain
6	chr1:151806200-151811000	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:151806400-151811800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:151807000-151810800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:151807200-151810600	Enhancers	Liver	Liver
10	chr1:151808400-151810800	Enhancers	HMEC	breast
11	chr1:151808800-151810800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:151808800-151810800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr1:151808800-151811200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:151809000-151812000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr1:151809200-151810800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:151809200-151811200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:151809400-151810600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:151809400-151810600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:151809400-151810600	Bivalent Enhancer	Fetal Thymus	thymus
20	chr1:151809600-151810600	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr1:151809600-151810600	Bivalent Enhancer	Fetal Intestine Small	intestine
22	chr1:151809600-151810600	Enhancers	HSMM	muscle
23	chr1:151809600-151810800	Bivalent Enhancer	Primary B cells from cord blood	blood
24	chr1:151809600-151812800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:151809800-151810600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr1:151809800-151810800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
27	chr1:151810000-151810600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr1:151810000-151810600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:151810000-151810600	Bivalent Enhancer	HUVEC	blood vessel
30	chr1:151810000-151811000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:151810000-151818800	Weak transcription	A549	lung
32	chr1:151810200-151810600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr1:151810200-151810600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr1:151810200-151810600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr1:151810200-151810600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:151810200-151810600	Bivalent Enhancer	Colon Smooth Muscle	Colon
37	chr1:151810200-151810600	Bivalent Enhancer	Fetal Heart	heart
38	chr1:151810200-151810600	Bivalent Enhancer	Fetal Stomach	stomach
39	chr1:151810200-151810600	Enhancers	Gastric	stomach
40	chr1:151810200-151810600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
41	chr1:151810200-151810800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:151810200-151810800	Bivalent Enhancer	Adipose Nuclei	Adipose
43	chr1:151810200-151811000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:151810200-151811200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr1:151810200-151811200	Enhancers	Spleen	Spleen
46	chr1:151810200-151811600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:151810200-151812400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
48	chr1:151810200-151812600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr1:151810200-151812800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr1:151810400-151810600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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