Variant report

Variant	rs145345815
Chromosome Location	chr1:10481905-10481906
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10474196..10477325-chr1:10477463..10484153,8	K562	blood:
2	chr1:10456065..10459752-chr1:10480399..10483247,3	K562	blood:
3	chr1:10458949..10460563-chr1:10481035..10483154,2	MCF-7	breast:
4	chr1:10480824..10482719-chr1:10531236..10533762,2	K562	blood:
5	chr1:10417330..10419820-chr1:10480235..10483214,2	K562	blood:
6	chr1:10474880..10479716-chr1:10481883..10486910,5	K562	blood:
7	chr1:10458252..10460577-chr1:10480549..10482459,3	K562	blood:

Variant related genes	Relation type
ENSG00000142655	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000160049	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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
13	esv1848589	chr1:10481373-10484818	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	nsv8324	chr1:10481597-10484645	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	esv3494866	chr1:10481765-10484813	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	esv3319263	chr1:10481890-10484738	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 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	chr1:10461600-10482800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:10461800-10482000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:10461800-10482000	Strong transcription	Dnd41	blood
15	chr1:10462000-10482000	Strong transcription	Fetal Intestine Large	intestine
16	chr1:10462000-10482200	Strong transcription	Brain Germinal Matrix	brain
17	chr1:10462000-10483000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:10462200-10482000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:10462200-10483200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:10462600-10482000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr1:10462800-10482200	Strong transcription	Thymus	Thymus
22	chr1:10462800-10482600	Strong transcription	Brain Anterior Caudate	brain
23	chr1:10462800-10483400	Strong transcription	Fetal Brain Female	brain
24	chr1:10463000-10482000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:10463000-10482200	Strong transcription	Fetal Thymus	thymus
26	chr1:10463200-10482000	Strong transcription	Brain Cingulate Gyrus	brain
27	chr1:10464200-10482000	Strong transcription	Spleen	Spleen
28	chr1:10464400-10482200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:10464400-10482400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:10464400-10482800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:10468800-10489800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr1:10470400-10482000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:10472000-10490000	Weak transcription	Stomach Mucosa	stomach
34	chr1:10473600-10488000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:10474200-10488000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:10474800-10482400	Strong transcription	Lung	lung
37	chr1:10475600-10482000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:10475600-10482200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:10475600-10489600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:10475800-10482000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:10475800-10482000	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr1:10475800-10482000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:10475800-10482400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:10475800-10490000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr1:10476000-10482000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:10476000-10482000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:10476000-10482400	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr1:10476400-10482400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:10476600-10483600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr1:10476800-10482200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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