Variant report

Variant	rs531826379
Chromosome Location	chr1:10481208-10481209
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10474109..10477987-chr1:10478782..10481616,9	K562	blood:
2	chr1:10474196..10477325-chr1:10477463..10484153,8	K562	blood:
3	chr1:10456065..10459752-chr1:10480399..10483247,3	K562	blood:
4	chr1:10458949..10460563-chr1:10481035..10483154,2	MCF-7	breast:
5	chr1:10480824..10482719-chr1:10531236..10533762,2	K562	blood:
6	chr1:10475618..10478486-chr1:10479191..10481866,2	MCF-7	breast:
7	chr1:10469567..10472179-chr1:10478906..10481569,2	MCF-7	breast:
8	chr1:10479306..10481846-chr1:10534906..10536972,2	K562	blood:
9	chr1:10417330..10419820-chr1:10480235..10483214,2	K562	blood:
10	chr1:10479206..10481807-chr1:10489257..10490879,3	K562	blood:
11	chr1:10458252..10460577-chr1:10480549..10482459,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160049	Chromatin interaction
ENSG00000175279	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000271989	Chromatin interaction
ENSG00000142655	Chromatin interaction
ENSG00000251503	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	esv1827009	chr1:10467074-10483456	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv1830329	chr1:10467074-10483456	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv1831760	chr1:10467074-10483456	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv1836264	chr1:10473200-10483456	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	esv3319265	chr1:10480465-10485563	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 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	chr1:10460000-10490200	Weak transcription	Psoas Muscle	Psoas
2	chr1:10460800-10482000	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:10460800-10482400	Strong transcription	Fetal Stomach	stomach
4	chr1:10460800-10483400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:10461000-10482000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:10461200-10482000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:10461200-10482000	Strong transcription	Fetal Muscle Leg	muscle
8	chr1:10461200-10490000	Weak transcription	Right Atrium	heart
9	chr1:10461400-10483000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:10461400-10483000	Strong transcription	Fetal Intestine Small	intestine
11	chr1:10461400-10483400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr1:10461600-10481800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:10461600-10482800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:10461800-10482000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:10461800-10482000	Strong transcription	Dnd41	blood
16	chr1:10462000-10482000	Strong transcription	Fetal Intestine Large	intestine
17	chr1:10462000-10482200	Strong transcription	Brain Germinal Matrix	brain
18	chr1:10462000-10483000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:10462200-10481600	Strong transcription	Liver	Liver
20	chr1:10462200-10481600	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:10462200-10482000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:10462200-10483200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:10462600-10482000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr1:10462800-10481600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr1:10462800-10481600	Strong transcription	GM12878-XiMat	blood
26	chr1:10462800-10482200	Strong transcription	Thymus	Thymus
27	chr1:10462800-10482600	Strong transcription	Brain Anterior Caudate	brain
28	chr1:10462800-10483400	Strong transcription	Fetal Brain Female	brain
29	chr1:10463000-10482000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:10463000-10482200	Strong transcription	Fetal Thymus	thymus
31	chr1:10463200-10482000	Strong transcription	Brain Cingulate Gyrus	brain
32	chr1:10464200-10482000	Strong transcription	Spleen	Spleen
33	chr1:10464400-10481800	Strong transcription	HSMMtube	muscle
34	chr1:10464400-10482200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:10464400-10482400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:10464400-10482800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:10466000-10481800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:10466400-10481800	Strong transcription	Primary T cells from cord blood	blood
39	chr1:10468800-10489800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:10470400-10482000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:10472000-10490000	Weak transcription	Stomach Mucosa	stomach
42	chr1:10473600-10488000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:10474200-10488000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr1:10474800-10482400	Strong transcription	Lung	lung
45	chr1:10475200-10481600	Strong transcription	Gastric	stomach
46	chr1:10475400-10481600	Strong transcription	HMEC	breast
47	chr1:10475600-10481600	Strong transcription	HSMM	muscle
48	chr1:10475600-10482000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:10475600-10482200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:10475600-10489600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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