Variant report

Variant	rs12067986
Chromosome Location	chr1:242033054-242033055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241681862..241683903-chr1:242032872..242034945,2	K562	blood:
2	chr1:242026426..242029268-chr1:242029901..242034404,4	K562	blood:
3	chr1:242019796..242021724-chr1:242031300..242034090,2	K562	blood:
4	chr1:242030614..242036400-chr1:242037381..242042163,8	K562	blood:

Variant related genes	Relation type
ENSG00000091483	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv528015	chr1:241865219-242070731	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv2762521	chr1:241891040-242074222	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv873374	chr1:241975147-242097624	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv1008886	chr1:242015591-242176983	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv2750830	chr1:242025098-242303357	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv2750831	chr1:242025098-242332959	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv523554	chr1:242029101-242096551	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv3385191	chr1:242032966-242033138	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv159780	chr1:242033025-242033056	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242012200-242044000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:242012400-242060200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:242012600-242051600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:242012600-242051800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:242012800-242054600	Weak transcription	HSMM	muscle
6	chr1:242012800-242056000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:242013000-242053400	Weak transcription	Fetal Lung	lung
8	chr1:242013200-242034200	Weak transcription	Brain Germinal Matrix	brain
9	chr1:242013200-242036600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:242013200-242038800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:242013200-242042000	Weak transcription	HepG2	liver
12	chr1:242013200-242048000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:242013200-242053200	Weak transcription	Osteobl	bone
14	chr1:242013200-242056400	Weak transcription	NHLF	lung
15	chr1:242013400-242049400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:242013400-242055800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:242013600-242038600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:242013600-242039000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:242014800-242034400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:242015600-242038800	Weak transcription	Fetal Intestine Large	intestine
21	chr1:242015800-242041200	Weak transcription	NHEK	skin
22	chr1:242017000-242053800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:242017800-242038400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:242018000-242033400	Weak transcription	Placenta	Placenta
25	chr1:242018000-242046600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:242018400-242065600	Weak transcription	Fetal Stomach	stomach
27	chr1:242019400-242037400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:242019600-242037000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:242019600-242037400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:242020400-242038200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:242020800-242037000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:242020800-242037000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:242020800-242038800	Strong transcription	Dnd41	blood
34	chr1:242023000-242034800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:242024600-242035400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:242024600-242043400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:242025200-242035600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:242026400-242082000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:242026800-242052600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:242028400-242037400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:242029600-242034400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:242029600-242034400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:242030000-242038800	Strong transcription	K562	blood
44	chr1:242030200-242033800	Strong transcription	HMEC	breast
45	chr1:242030200-242034000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr1:242030200-242034000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:242030200-242034400	Strong transcription	A549	lung
48	chr1:242030400-242063600	Weak transcription	NHDF-Ad	bronchial
49	chr1:242030600-242037200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:242030800-242042200	Weak transcription	Fetal Muscle Leg	muscle

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