Variant report

Variant	rs146197720
Chromosome Location	chr1:10489667-10489668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10457794..10460664-chr1:10487844..10492697,5	K562	blood:
2	chr1:10488008..10492443-chr1:10531123..10534892,8	K562	blood:
3	chr1:10488905..10491611-chr1:10518532..10520834,2	MCF-7	breast:
4	chr1:10483316..10484984-chr1:10487772..10489866,2	K562	blood:
5	chr1:10489448..10493967-chr1:10494423..10498103,7	K562	blood:
6	chr1:10457794..10461321-chr1:10487053..10491931,7	K562	blood:

Variant related genes	Relation type
ENSG00000203469	Chromatin interaction
ENSG00000251503	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000160049	Chromatin interaction
ENSG00000142655	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	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	esv3373675	chr1:10489565-10491863	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 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	chr1:10461200-10490000	Weak transcription	Right Atrium	heart
3	chr1:10468800-10489800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:10472000-10490000	Weak transcription	Stomach Mucosa	stomach
5	chr1:10475800-10490000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:10477800-10490000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:10477800-10490000	Weak transcription	Fetal Heart	heart
8	chr1:10478200-10490000	Weak transcription	Fetal Brain Male	brain
9	chr1:10479800-10490200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:10480200-10490000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:10480200-10490000	Weak transcription	Pancreas	Pancrea
12	chr1:10480200-10490400	Weak transcription	Aorta	Aorta
13	chr1:10480400-10489800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:10480400-10490000	Weak transcription	Colonic Mucosa	Colon
15	chr1:10480400-10490000	Weak transcription	Small Intestine	intestine
16	chr1:10480400-10490000	Weak transcription	NH-A	brain
17	chr1:10480600-10489800	Weak transcription	Hela-S3	cervix
18	chr1:10480800-10490000	Weak transcription	Placenta	Placenta
19	chr1:10480800-10490200	Weak transcription	Left Ventricle	heart
20	chr1:10481000-10489800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:10481000-10490000	Weak transcription	Right Ventricle	heart
22	chr1:10481200-10489800	Weak transcription	Osteobl	bone
23	chr1:10481200-10490000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:10481400-10490200	Weak transcription	Ovary	ovary
25	chr1:10481600-10489800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:10481600-10489800	Weak transcription	HMEC	breast
27	chr1:10481600-10490000	Weak transcription	Gastric	stomach
28	chr1:10481600-10490000	Weak transcription	HSMM	muscle
29	chr1:10481800-10489800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:10481800-10489800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:10481800-10490000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:10481800-10490000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:10481800-10490000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:10481800-10490000	Weak transcription	HSMMtube	muscle
35	chr1:10482000-10489800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:10482000-10490000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:10482000-10490000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:10482000-10490000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:10482000-10490000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:10482000-10490000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:10482000-10490000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:10482000-10490000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:10482000-10490000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:10482000-10490000	Weak transcription	Esophagus	oesophagus
45	chr1:10482000-10490000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:10482000-10490000	Weak transcription	Spleen	Spleen
47	chr1:10482000-10490200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:10482200-10490000	Weak transcription	Thymus	Thymus
49	chr1:10482400-10489800	Weak transcription	Lung	lung
50	chr1:10482800-10489800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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