Variant report

Variant	rs142744195
Chromosome Location	chr21:46644429-46644430
allele	-/GAA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46494100..46496574-chr21:46644222..46646610,2	K562	blood:
2	chr21:46639784..46642499-chr21:46642980..46645801,2	K562	blood:
3	chr21:46629095..46632023-chr21:46643087..46645467,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv587839	chr21:46580370-46837709	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	nsv587840	chr21:46580370-46839904	Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers 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	53 gene(s)	inside rSNPs	diseases
12	nsv916959	chr21:46585681-46831845	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv1063721	chr21:46610599-46907894	Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv1059779	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
15	nsv544485	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
16	nsv1059805	chr21:46618210-46736943	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv587841	chr21:46619840-46647078	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv913999	chr21:46636844-46765251	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
19	nsv587842	chr21:46641017-46670752	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
20	esv3417671	chr21:46644349-46645100	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv3432301	chr21:46644425-46644588	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv2601304	chr21:46644429-46644431	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46589000-46646000	Weak transcription	Colonic Mucosa	Colon
2	chr21:46610000-46644800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr21:46610800-46647800	Weak transcription	Brain Angular Gyrus	brain
4	chr21:46611000-46644600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr21:46611000-46645000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr21:46625000-46645000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr21:46628800-46644600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr21:46628800-46644800	Strong transcription	HSMM	muscle
9	chr21:46629600-46645400	Weak transcription	NHLF	lung
10	chr21:46632600-46647000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:46637400-46646000	Strong transcription	Hela-S3	cervix
12	chr21:46637800-46644800	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr21:46637800-46668600	Weak transcription	Right Atrium	heart
14	chr21:46638400-46646400	Weak transcription	Fetal Intestine Large	intestine
15	chr21:46638600-46646600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr21:46638800-46645000	Weak transcription	NH-A	brain
17	chr21:46639200-46644600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr21:46639800-46646400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr21:46639800-46648000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr21:46640200-46644600	Strong transcription	Aorta	Aorta
21	chr21:46640200-46645000	Weak transcription	NHEK	skin
22	chr21:46640400-46644600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:46640400-46644600	Weak transcription	HMEC	breast
24	chr21:46640400-46645800	Strong transcription	HSMMtube	muscle
25	chr21:46640600-46644600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr21:46641000-46648000	Weak transcription	Fetal Brain Male	brain
27	chr21:46641400-46644800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr21:46641400-46645400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr21:46641600-46648400	Weak transcription	Brain Substantia Nigra	brain
30	chr21:46642000-46648800	Weak transcription	Primary B cells from cord blood	blood
31	chr21:46642200-46645400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr21:46642200-46645400	Weak transcription	Brain Germinal Matrix	brain
33	chr21:46642200-46646000	Weak transcription	Fetal Lung	lung
34	chr21:46642200-46648000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr21:46642400-46645400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:46642400-46649200	Weak transcription	Fetal Intestine Small	intestine
37	chr21:46642800-46646200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr21:46642800-46647000	Weak transcription	Dnd41	blood
39	chr21:46642800-46647800	Weak transcription	Brain Hippocampus Middle	brain
40	chr21:46643600-46646200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr21:46643600-46646600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr21:46643600-46649600	Enhancers	Primary T cells fromperipheralblood	blood
43	chr21:46643800-46645600	Weak transcription	Ovary	ovary
44	chr21:46643800-46645800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr21:46643800-46646000	Weak transcription	Fetal Brain Female	brain
46	chr21:46643800-46646400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr21:46643800-46647000	Enhancers	Fetal Thymus	thymus
48	chr21:46643800-46647800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr21:46643800-46647800	Weak transcription	Brain Anterior Caudate	brain
50	chr21:46643800-46648000	Weak transcription	Esophagus	oesophagus

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