Variant report

Variant	rs141000462
Chromosome Location	chr1:10568318-10568319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10566900..10569422-chr1:10571271..10572995,2	K562	blood:
2	chr1:10567638..10569716-chr1:10700234..10702656,2	K562	blood:
3	chr1:10568015..10570793-chr1:10754272..10755934,2	MCF-7	breast:
4	chr1:10566397..10569050-chr1:10569611..10571606,2	MCF-7	breast:
5	chr1:10534928..10537211-chr1:10567744..10569324,3	K562	blood:
6	chr1:10566008..10570273-chr1:10573569..10578315,6	K562	blood:
7	chr1:10567723..10570074-chr1:10684964..10687923,2	K562	blood:

Variant related genes	Relation type
ENSG00000142655	Chromatin interaction
ENSG00000130940	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv2521	chr1:10553530-10598171	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv8435	chr1:10568184-10572374	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10554800-10568600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:10555200-10568400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:10555200-10568600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:10555200-10570000	Weak transcription	Aorta	Aorta
5	chr1:10555600-10568600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:10555600-10568600	Weak transcription	Pancreas	Pancrea
7	chr1:10555600-10568600	Weak transcription	HSMMtube	muscle
8	chr1:10555600-10570400	Weak transcription	Brain Substantia Nigra	brain
9	chr1:10555600-10570400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:10555600-10570600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:10555800-10568600	Weak transcription	Esophagus	oesophagus
12	chr1:10555800-10569600	Weak transcription	Colonic Mucosa	Colon
13	chr1:10555800-10570400	Weak transcription	Brain Anterior Caudate	brain
14	chr1:10556000-10569400	Weak transcription	Fetal Brain Female	brain
15	chr1:10556000-10570200	Weak transcription	Brain Angular Gyrus	brain
16	chr1:10556400-10570200	Weak transcription	Fetal Kidney	kidney
17	chr1:10556600-10568600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:10556600-10570000	Weak transcription	Right Ventricle	heart
19	chr1:10556600-10570400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:10556600-10570400	Weak transcription	Stomach Mucosa	stomach
21	chr1:10557000-10569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:10557400-10568600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:10557600-10568800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:10557600-10569600	Weak transcription	HMEC	breast
25	chr1:10557600-10569600	Weak transcription	NHEK	skin
26	chr1:10557800-10569400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:10557800-10569600	Weak transcription	NHLF	lung
28	chr1:10559000-10570600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr1:10559200-10570200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:10562600-10570000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:10562600-10570200	Weak transcription	Small Intestine	intestine
32	chr1:10562600-10570600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:10562800-10570000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:10564600-10568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:10564800-10569200	Weak transcription	HUVEC	blood vessel
36	chr1:10564800-10570000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:10564800-10570400	Weak transcription	Right Atrium	heart
38	chr1:10564800-10570600	Weak transcription	Lung	lung
39	chr1:10565400-10568600	Weak transcription	Left Ventricle	heart
40	chr1:10566400-10577800	Enhancers	Fetal Thymus	thymus
41	chr1:10566800-10568400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr1:10566800-10579800	Enhancers	Liver	Liver
43	chr1:10567000-10570000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr1:10567000-10570600	Enhancers	GM12878-XiMat	blood
45	chr1:10567200-10568800	Enhancers	HepG2	liver
46	chr1:10567200-10569000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr1:10567200-10569800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:10567200-10570400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:10567200-10570600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr1:10567200-10570600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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