Variant report

Variant	rs558817750
Chromosome Location	chr9:71400227-71400228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71398863..71402159-chr9:71407140..71410574,3	K562	blood:
2	chr9:71393340..71397150-chr9:71397904..71401826,5	MCF-7	breast:
3	chr9:71397331..71400852-chr9:71402232..71407061,5	K562	blood:
4	chr9:71394389..71396073-chr9:71398400..71400500,2	K562	blood:
5	chr9:71398048..71400496-chr9:71420484..71423422,2	K562	blood:
6	chr9:71382779..71384863-chr9:71399277..71400843,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236998	Chromatin interaction
ENSG00000187866	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71396000-71400400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr9:71396000-71402400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr9:71396000-71403400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr9:71396000-71408200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:71396200-71400600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:71396200-71400800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr9:71396200-71400800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr9:71396200-71400800	Enhancers	Brain Hippocampus Middle	brain
9	chr9:71396200-71400800	Enhancers	Fetal Heart	heart
10	chr9:71396200-71401000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr9:71396200-71401000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr9:71396200-71409800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:71396600-71400400	Enhancers	Thymus	Thymus
14	chr9:71397200-71401000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr9:71397200-71402200	Weak transcription	A549	lung
16	chr9:71397200-71403800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:71397200-71404200	Weak transcription	Esophagus	oesophagus
18	chr9:71397200-71409600	Weak transcription	Colonic Mucosa	Colon
19	chr9:71397200-71417400	Weak transcription	Lung	lung
20	chr9:71397800-71401400	Weak transcription	Placenta	Placenta
21	chr9:71397800-71408000	Weak transcription	Gastric	stomach
22	chr9:71398000-71400400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr9:71398200-71400400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr9:71398600-71404200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:71398600-71405400	Strong transcription	Primary B cells from cord blood	blood
26	chr9:71398800-71401000	Enhancers	Rectal Smooth Muscle	rectum
27	chr9:71398800-71401800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:71398800-71401800	Weak transcription	Aorta	Aorta
29	chr9:71398800-71406000	Weak transcription	Spleen	Spleen
30	chr9:71398800-71408000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr9:71398800-71409800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr9:71399000-71400800	Enhancers	Adipose Nuclei	Adipose
33	chr9:71399000-71400800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr9:71399000-71401000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr9:71399000-71401000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr9:71399000-71401000	Enhancers	Fetal Brain Male	brain
37	chr9:71399000-71401000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr9:71399000-71401800	Weak transcription	Fetal Intestine Small	intestine
39	chr9:71399000-71403000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr9:71399000-71403000	Weak transcription	Fetal Muscle Leg	muscle
41	chr9:71399000-71403800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr9:71399000-71404000	Weak transcription	Ovary	ovary
43	chr9:71399000-71405600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr9:71399000-71406200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr9:71399000-71408400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr9:71399000-71408400	Weak transcription	Stomach Mucosa	stomach
47	chr9:71399000-71420200	Weak transcription	Fetal Stomach	stomach
48	chr9:71399200-71400600	Enhancers	Fetal Brain Female	brain
49	chr9:71399200-71400600	Weak transcription	Fetal Lung	lung
50	chr9:71399200-71407800	Weak transcription	GM12878-XiMat	blood

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