Variant report

Variant	rs187806942
Chromosome Location	chr8:131027733-131027734
allele	C/T
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130960320..130961292-chr8:131027438..131028472,5	MCF-7	breast:
2	chr8:131019270..131022496-chr8:131027575..131029857,4	MCF-7	breast:
3	chr8:130950293..130952850-chr8:131027033..131029151,3	MCF-7	breast:
4	chr20:47442643..47444706-chr8:131026917..131028434,2	MCF-7	breast:
5	chr8:130951997..130952639-chr8:131027123..131027922,3	MCF-7	breast:
6	chr8:130981588..130985969-chr8:131027661..131030801,4	K562	blood:
7	chr8:130949293..130953390-chr8:131026261..131028875,4	K562	blood:
8	chr8:130951430..130951975-chr8:131027547..131028096,2	K562	blood:
9	chr8:130908607..130911071-chr8:131026510..131028615,2	MCF-7	breast:
10	chr8:130949943..130953390-chr8:131026093..131029581,5	K562	blood:
11	chr8:130982299..130983095-chr8:131026665..131027754,4	MCF-7	breast:
12	chr8:131018416..131020834-chr8:131027208..131028989,2	MCF-7	breast:
13	chr8:130950508..130954142-chr8:131027064..131029855,6	MCF-7	breast:
14	chr8:130981588..130985969-chr8:131024671..131030870,8	K562	blood:
15	chr8:131025540..131027750-chr8:131037896..131040382,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124126	Chromatin interaction
ENSG00000253720	Chromatin interaction
ENSG00000153310	Chromatin interaction
ENSG00000264653	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv465809	chr8:131005345-131031827	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv612233	chr8:131005345-131031827	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	esv3358282	chr8:131027595-131030143	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv3389294	chr8:131027670-131029918	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr8:131012600-131027800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:131022200-131028000	Weak transcription	Ovary	ovary
3	chr8:131025400-131027800	Enhancers	Fetal Heart	heart
4	chr8:131026200-131028000	Enhancers	Fetal Brain Male	brain
5	chr8:131026400-131028000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr8:131026600-131028000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr8:131026600-131028000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr8:131026600-131028200	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr8:131026600-131028200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr8:131026600-131028200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr8:131026800-131027800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr8:131026800-131028000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:131026800-131028000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:131026800-131028000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr8:131026800-131028000	Flanking Active TSS	A549	lung
16	chr8:131026800-131028200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr8:131026800-131028200	Flanking Active TSS	GM12878-XiMat	blood
18	chr8:131026800-131028400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:131026800-131029600	Active TSS	Brain Anterior Caudate	brain
20	chr8:131027000-131027800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:131027000-131027800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:131027000-131027800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:131027000-131027800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr8:131027000-131027800	Flanking Active TSS	Fetal Brain Female	brain
25	chr8:131027000-131028000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr8:131027000-131028000	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr8:131027000-131028000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr8:131027000-131028000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr8:131027000-131028000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr8:131027000-131028000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr8:131027000-131028000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:131027000-131028000	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr8:131027000-131028000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr8:131027000-131028000	Flanking Active TSS	Hela-S3	cervix
35	chr8:131027000-131028000	Flanking Active TSS	HMEC	breast
36	chr8:131027000-131028000	Flanking Active TSS	K562	blood
37	chr8:131027000-131028000	Flanking Active TSS	NHEK	skin
38	chr8:131027000-131028000	Flanking Active TSS	Osteobl	bone
39	chr8:131027000-131028200	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr8:131027000-131028200	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr8:131027000-131028200	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr8:131027000-131029600	Active TSS	Brain Hippocampus Middle	brain
43	chr8:131027000-131029600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr8:131027200-131027800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:131027200-131027800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:131027200-131027800	Flanking Active TSS	Fetal Stomach	stomach
47	chr8:131027200-131028000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr8:131027200-131028000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr8:131027200-131028200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:131027200-131029000	Active TSS	HUES64 Cell Line	embryonic stem cell

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