Variant report

Variant	rs531236471
Chromosome Location	chr9:98218474-98218475
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:98199109..98200665-chr9:98217953..98219861,2	K562	blood:
2	chr9:98218003..98222058-chr9:98271885..98274474,3	K562	blood:
3	chr9:98187807..98190501-chr9:98217714..98219257,2	MCF-7	breast:
4	chr9:98077820..98081322-chr9:98214829..98218712,4	K562	blood:
5	chr9:98218196..98221051-chr9:98231021..98232882,2	K562	blood:

Variant related genes	Relation type
ENSG00000158169	Chromatin interaction
ENSG00000185920	Chromatin interaction
ENSG00000237857	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	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv949520	chr9:98204199-98238358	Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv430083	chr9:98204245-98445645	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1053762	chr9:98208542-98232120	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1047465	chr9:98217524-98228225	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98202000-98224600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:98204400-98220400	Strong transcription	Fetal Intestine Large	intestine
3	chr9:98204800-98224400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:98206000-98224400	Weak transcription	HUVEC	blood vessel
5	chr9:98206000-98237600	Weak transcription	Psoas Muscle	Psoas
6	chr9:98206200-98221400	Strong transcription	Fetal Intestine Small	intestine
7	chr9:98206600-98220200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:98206600-98220200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr9:98206600-98220400	Strong transcription	Duodenum Mucosa	Duodenum
10	chr9:98206600-98221200	Strong transcription	Brain Hippocampus Middle	brain
11	chr9:98206600-98223000	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:98206600-98224000	Strong transcription	Adipose Nuclei	Adipose
13	chr9:98206600-98224600	Strong transcription	Aorta	Aorta
14	chr9:98206600-98225200	Strong transcription	Pancreas	Pancrea
15	chr9:98206800-98219200	Strong transcription	Gastric	stomach
16	chr9:98207000-98221000	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr9:98207000-98221800	Strong transcription	Ovary	ovary
18	chr9:98207000-98223000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr9:98207200-98219400	Strong transcription	Brain Substantia Nigra	brain
20	chr9:98207200-98223200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr9:98207200-98224400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr9:98207400-98224200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr9:98207600-98224400	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr9:98208000-98224400	Weak transcription	HSMM	muscle
25	chr9:98208400-98220000	Weak transcription	NH-A	brain
26	chr9:98208600-98224000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:98209200-98219000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:98209200-98220200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr9:98209400-98222600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr9:98209600-98224000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr9:98209600-98224400	Weak transcription	NHDF-Ad	bronchial
32	chr9:98209800-98219800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr9:98210400-98223800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr9:98210600-98221800	Strong transcription	Brain Cingulate Gyrus	brain
35	chr9:98210800-98221200	Strong transcription	Fetal Muscle Leg	muscle
36	chr9:98210800-98221800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr9:98211200-98224200	Strong transcription	Left Ventricle	heart
38	chr9:98211400-98224600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr9:98211800-98222600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:98212000-98224600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr9:98212400-98220400	Weak transcription	Hela-S3	cervix
42	chr9:98213200-98224600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr9:98213600-98221800	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr9:98213600-98224000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr9:98213600-98224400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr9:98213800-98220200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr9:98214000-98219200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr9:98214000-98219800	Weak transcription	Colon Smooth Muscle	Colon
49	chr9:98214000-98221400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:98214200-98219600	Strong transcription	Fetal Brain Female	brain

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