Variant report

Variant	rs180965157
Chromosome Location	chr1:95005880-95005881
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	POLR2A	chr1:95005611-95008251	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:94992567-95005960	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:94991604-95010849	IMR90	lung:	n/a	n/a
4	RAD21	chr1:95005043-95005922	IMR90	lung:	n/a	n/a
5	POLR2A	chr1:95000323-95009541	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr1:95003836-95008278	U87	brain:	n/a	n/a
7	CHD1	chr1:94994939-95011321	IMR90	lung:	n/a	n/a
8	USF2	chr1:95005863-95006897	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:95004799-95008370	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:95004630-95008333	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr1:95003842-95005922	U87	brain:	n/a	n/a
12	MAX	chr1:95005063-95008387	Hela-S3	cervix:	n/a	chr1:95006717-95006724 chr1:95006812-95006821
13	RFX5	chr1:95005068-95007782	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:94999692-95008368	ProgFib	skin:	n/a	n/a
15	TBP	chr1:95005043-95006937	Hela-S3	cervix:	n/a	n/a
16	MAZ	chr1:95004703-95008397	IMR90	lung:	n/a	chr1:95006717-95006724 chr1:95006812-95006821

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95004121..95007110-chr1:95017554..95021316,3	MCF-7	breast:

Variant related genes	Relation type
F3	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94965600-95006400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:94986000-95006200	Weak transcription	Liver	Liver
3	chr1:94994600-95006200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:94995200-95006200	Weak transcription	Spleen	Spleen
5	chr1:95001200-95006400	Weak transcription	Small Intestine	intestine
6	chr1:95001400-95006600	Transcr. at gene 5' and 3'	HMEC	breast
7	chr1:95001600-95006200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:95001600-95007400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:95001600-95007800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:95001800-95006000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:95001800-95006200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr1:95001800-95007000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:95001800-95007800	Active TSS	Brain Hippocampus Middle	brain
14	chr1:95002000-95006200	Weak transcription	Aorta	Aorta
15	chr1:95002200-95006000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:95002400-95006600	Transcr. at gene 5' and 3'	NHLF	lung
17	chr1:95002600-95006600	Active TSS	Fetal Brain Female	brain
18	chr1:95002800-95006800	Transcr. at gene 5' and 3'	NHEK	skin
19	chr1:95002800-95007200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:95002800-95007600	Active TSS	Brain Anterior Caudate	brain
21	chr1:95003000-95007800	Active TSS	Right Atrium	heart
22	chr1:95003000-95008400	Active TSS	Brain Angular Gyrus	brain
23	chr1:95003200-95006400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr1:95003200-95007800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr1:95003200-95007800	Active TSS	Fetal Intestine Large	intestine
26	chr1:95003800-95007600	Active TSS	Stomach Smooth Muscle	stomach
27	chr1:95003800-95007800	Active TSS	Brain Cingulate Gyrus	brain
28	chr1:95004000-95006800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:95004200-95006000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:95004200-95006200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:95004200-95006800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr1:95004200-95008800	Active TSS	Ovary	ovary
33	chr1:95004400-95006000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:95004400-95006200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:95004400-95006200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:95004400-95006200	Active TSS	Osteobl	bone
37	chr1:95004400-95006400	Active TSS	Brain Germinal Matrix	brain
38	chr1:95004400-95006400	Active TSS	Placenta	Placenta
39	chr1:95004400-95007800	Active TSS	Left Ventricle	heart
40	chr1:95004400-95007800	Active TSS	Right Ventricle	heart
41	chr1:95004400-95007800	Active TSS	NH-A	brain
42	chr1:95004400-95008200	Active TSS	Pancreas	Pancrea
43	chr1:95004600-95006000	Active TSS	Fetal Intestine Small	intestine
44	chr1:95004600-95006400	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr1:95004600-95006400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:95004600-95007800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:95004800-95006000	Flanking Active TSS	Hela-S3	cervix
48	chr1:95004800-95006800	Bivalent/Poised TSS	Thymus	Thymus
49	chr1:95004800-95007800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:95004800-95007800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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