Variant report

Variant	rs533470071
Chromosome Location	chr2:46812990-46812991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46811229..46813597-chr2:46844623..46846343,2	K562	blood:
2	chr2:46790452..46793427-chr2:46811827..46814978,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv521013	chr2:46812338-46817644	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46775600-46815800	Weak transcription	Fetal Brain Female	brain
2	chr2:46783600-46838000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:46790000-46842000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:46796600-46822000	Weak transcription	Fetal Brain Male	brain
5	chr2:46796800-46838000	Weak transcription	Fetal Kidney	kidney
6	chr2:46796800-46842800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:46797800-46814400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:46797800-46841000	Weak transcription	K562	blood
9	chr2:46798200-46838000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:46801200-46815000	Weak transcription	Psoas Muscle	Psoas
11	chr2:46802400-46815000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:46802400-46842600	Weak transcription	NHEK	skin
13	chr2:46802800-46837000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:46803400-46818800	Weak transcription	HepG2	liver
15	chr2:46803400-46842800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:46805600-46815600	Weak transcription	Fetal Lung	lung
17	chr2:46805600-46836400	Weak transcription	HSMM	muscle
18	chr2:46806600-46813600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:46806600-46818800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:46807200-46816800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:46807400-46821200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:46807600-46821200	Weak transcription	Thymus	Thymus
23	chr2:46807600-46828400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:46807600-46842400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:46807600-46842600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:46807800-46814400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:46807800-46816800	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:46807800-46818000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:46807800-46819400	Weak transcription	Dnd41	blood
30	chr2:46807800-46821600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:46807800-46821600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:46807800-46824600	Weak transcription	Fetal Intestine Small	intestine
33	chr2:46807800-46825000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:46807800-46828400	Weak transcription	Brain Substantia Nigra	brain
35	chr2:46807800-46835200	Weak transcription	Fetal Intestine Large	intestine
36	chr2:46807800-46835200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:46807800-46835400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:46807800-46835400	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:46807800-46836400	Weak transcription	Primary T cells from cord blood	blood
40	chr2:46807800-46842400	Weak transcription	NHLF	lung
41	chr2:46807800-46842600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:46807800-46842800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:46807800-46842800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:46807800-46842800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:46807800-46842800	Weak transcription	HSMMtube	muscle
46	chr2:46807800-46843000	Weak transcription	Brain Germinal Matrix	brain
47	chr2:46807800-46843000	Weak transcription	Fetal Stomach	stomach
48	chr2:46807800-46843200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:46808000-46813800	Weak transcription	Fetal Heart	heart
50	chr2:46808000-46814400	Weak transcription	Left Ventricle	heart

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