Variant report

Variant	rs4149950
Chromosome Location	chr1:242030825-242030826
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:242026426..242029268-chr1:242029901..242034404,4	K562	blood:
2	chr1:242030614..242036400-chr1:242037381..242042163,8	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4149908	1.00[AFR][1000 genomes]
rs4149910	1.00[AFR][1000 genomes]
rs4149929	1.00[AFR][1000 genomes]
rs4149951	1.00[AFR][1000 genomes]
rs4149957	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242012000-242032600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:242012200-242044000	Weak transcription	Primary B cells from cord blood	blood
3	chr1:242012400-242060200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:242012600-242051600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:242012600-242051800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:242012800-242054600	Weak transcription	HSMM	muscle
7	chr1:242012800-242056000	Weak transcription	Fetal Intestine Small	intestine
8	chr1:242013000-242053400	Weak transcription	Fetal Lung	lung
9	chr1:242013200-242032400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:242013200-242034200	Weak transcription	Brain Germinal Matrix	brain
11	chr1:242013200-242036600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:242013200-242038800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:242013200-242042000	Weak transcription	HepG2	liver
14	chr1:242013200-242048000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:242013200-242053200	Weak transcription	Osteobl	bone
16	chr1:242013200-242056400	Weak transcription	NHLF	lung
17	chr1:242013400-242049400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:242013400-242055800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:242013600-242038600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:242013600-242039000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:242014800-242034400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:242015600-242038800	Weak transcription	Fetal Intestine Large	intestine
23	chr1:242015800-242041200	Weak transcription	NHEK	skin
24	chr1:242017000-242053800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:242017400-242031600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:242017800-242038400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:242018000-242033400	Weak transcription	Placenta	Placenta
28	chr1:242018000-242046600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:242018400-242065600	Weak transcription	Fetal Stomach	stomach
30	chr1:242019400-242037400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:242019600-242037000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:242019600-242037400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:242020400-242038200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:242020800-242037000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:242020800-242037000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:242020800-242038800	Strong transcription	Dnd41	blood
37	chr1:242021600-242032600	Strong transcription	GM12878-XiMat	blood
38	chr1:242023000-242034800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:242024000-242032400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:242024600-242035400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:242024600-242043400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:242025200-242035600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:242026400-242082000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:242026800-242052600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:242028400-242037400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:242029600-242034400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:242029600-242034400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:242029800-242032000	Strong transcription	Fetal Thymus	thymus
49	chr1:242030000-242031000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:242030000-242032200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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