Variant report

Variant	rs551250807
Chromosome Location	chr9:100747441-100747442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
2	chr9:100745732..100748566-chr9:100835046..100837989,2	MCF-7	breast:
3	chr9:100743079..100747890-chr9:100817276..100822371,7	K562	blood:
4	chr10:75006711..75007399-chr9:100747059..100747804,2	Hela-S3	cervix:
5	chr8:86019469..86022152-chr9:100745432..100747844,2	MCF-7	breast:
6	chr9:100746762..100748663-chr9:100996503..100998801,2	MCF-7	breast:
7	chr9:100746284..100748016-chr9:100953069..100955569,2	MCF-7	breast:
8	chr9:100682029..100688801-chr9:100740969..100749393,29	MCF-7	breast:
9	chr9:100747093..100749560-chr9:100817849..100820641,3	MCF-7	breast:
10	chr9:100742340..100750312-chr9:100816953..100823782,17	MCF-7	breast:
11	chr14:34417944..34420786-chr9:100744880..100747851,2	MCF-7	breast:
12	chr9:100746007..100747769-chr9:100880971..100883349,2	MCF-7	breast:
13	chr9:100458946..100460891-chr9:100746178..100747740,2	MCF-7	breast:
14	chr9:100393798..100396909-chr9:100744219..100748139,5	MCF-7	breast:
15	chr9:100744956..100747904-chr9:100835369..100837055,2	K562	blood:
16	chr9:100745249..100747545-chr9:100817221..100819862,3	K562	blood:
17	chr13:96566533..96568077-chr9:100747317..100749032,2	MCF-7	breast:
18	chr9:100744716..100748585-chr9:100832900..100838437,10	MCF-7	breast:
19	chr17:66286131..66288526-chr9:100744742..100747480,2	MCF-7	breast:
20	chr9:100747352..100749216-chr9:100789908..100792300,2	K562	blood:
21	chr9:100744384..100747791-chr9:101014978..101019057,4	MCF-7	breast:
22	chr11:1770145..1772134-chr9:100745405..100747751,2	MCF-7	breast:
23	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
24	chr9:100745634..100748414-chr9:100792592..100795011,2	MCF-7	breast:
25	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224001	Chromatin interaction
ENSG00000095383	Chromatin interaction
ENSG00000136936	Chromatin interaction
ENSG00000136925	Chromatin interaction
ENSG00000106785	Chromatin interaction
ENSG00000141337	Chromatin interaction
ENSG00000236756	Chromatin interaction
ENSG00000212521	Chromatin interaction
ENSG00000136937	Chromatin interaction
ENSG00000136932	Chromatin interaction
ENSG00000201830	Chromatin interaction
ENSG00000133739	Chromatin interaction
ENSG00000108932	Chromatin interaction
ENSG00000129521	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000106789	Chromatin interaction
ENSG00000136929	Chromatin interaction
ENSG00000244242	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893612	chr9:100732802-100754703	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	esv3525787	chr9:100744481-100748729	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases
3	esv3525788	chr9:100744481-100748729	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases
4	esv3355582	chr9:100744831-100749229	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	esv3441780	chr9:100745156-100748104	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases
6	esv3327191	chr9:100746156-100749004	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 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	chr9:100744000-100747800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr9:100744200-100747800	Active TSS	Fetal Brain Female	brain
3	chr9:100744400-100747800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr9:100744600-100747600	Active TSS	A549	lung
5	chr9:100744600-100747600	Active TSS	HSMMtube	muscle
6	chr9:100744600-100747600	Active TSS	NHDF-Ad	bronchial
7	chr9:100744600-100747800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:100744600-100747800	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr9:100744600-100747800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr9:100744600-100748000	Active TSS	Brain Angular Gyrus	brain
11	chr9:100744600-100748000	Active TSS	NHLF	lung
12	chr9:100744600-100748600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:100744800-100747600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:100744800-100747600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:100744800-100747600	Active TSS	Aorta	Aorta
16	chr9:100744800-100747600	Active TSS	Fetal Lung	lung
17	chr9:100744800-100747600	Active TSS	Gastric	stomach
18	chr9:100744800-100747600	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr9:100744800-100747600	Active TSS	Rectal Smooth Muscle	rectum
20	chr9:100744800-100747600	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr9:100744800-100747600	Active TSS	Hela-S3	cervix
22	chr9:100744800-100747600	Active TSS	NHEK	skin
23	chr9:100744800-100747800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:100744800-100747800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:100744800-100747800	Active TSS	Brain Substantia Nigra	brain
26	chr9:100744800-100747800	Active TSS	Fetal Intestine Large	intestine
27	chr9:100744800-100747800	Active TSS	Small Intestine	intestine
28	chr9:100744800-100748000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr9:100744800-100748000	Active TSS	Esophagus	oesophagus
30	chr9:100744800-100748000	Active TSS	Fetal Kidney	kidney
31	chr9:100744800-100748000	Active TSS	Right Atrium	heart
32	chr9:100744800-100748200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:100744800-100748400	Active TSS	HSMM	muscle
34	chr9:100745000-100747600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:100745000-100747600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:100745000-100747600	Active TSS	Ovary	ovary
37	chr9:100745000-100747800	Active TSS	Brain Cingulate Gyrus	brain
38	chr9:100745000-100747800	Active TSS	Brain Hippocampus Middle	brain
39	chr9:100745000-100748000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:100745000-100748200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:100745200-100747600	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr9:100745200-100747600	Active TSS	Duodenum Mucosa	Duodenum
43	chr9:100745200-100747600	Active TSS	Fetal Intestine Small	intestine
44	chr9:100745200-100747600	Active TSS	Fetal Thymus	thymus
45	chr9:100745200-100747600	Active TSS	GM12878-XiMat	blood
46	chr9:100745200-100747800	Active TSS	Liver	Liver
47	chr9:100745200-100747800	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr9:100745200-100748000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr9:100745200-100748000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:100745200-100748400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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