Variant report

Variant	rs557385455
Chromosome Location	chr2:64316825-64316826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr2:64316735-64317989	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:64316760-64317836	GM12891	blood:	n/a	n/a
3	POLR2A	chr2:64316783-64317857	GM12891	blood:	n/a	n/a
4	POLR2A	chr2:64316623-64317899	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:64316760-64317783	GM12892	blood:	n/a	n/a
6	POLR2A	chr2:64316350-64320106	GM12891	blood:	n/a	n/a
7	POLR2A	chr2:64316623-64318167	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:64316646-64318833	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64316021..64319950-chr2:64320900..64323334,4	K562	blood:
2	chr2:64315474..64318085-chr2:64320703..64322833,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGP2-3	chr2:64316482-64318014	NONHSAT071087

No data

Variant related genes	Relation type
ENSG00000228079	TF binding region

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	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv2553798	chr2:64315959-64317339	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr2:64302000-64318200	Weak transcription	Fetal Intestine Large	intestine
2	chr2:64303400-64318400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:64303800-64318400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:64304200-64321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:64305800-64318000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:64307000-64318400	Weak transcription	Placenta	Placenta
7	chr2:64307600-64318400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:64309600-64317200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:64309600-64320800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:64311400-64321800	Weak transcription	Small Intestine	intestine
11	chr2:64311800-64321200	Weak transcription	K562	blood
12	chr2:64311800-64321800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:64311800-64321800	Weak transcription	Brain Germinal Matrix	brain
14	chr2:64312000-64317200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:64312200-64318400	Weak transcription	Liver	Liver
16	chr2:64312800-64321200	Weak transcription	Psoas Muscle	Psoas
17	chr2:64313200-64321200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:64313200-64321400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:64313200-64321600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:64313200-64321800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:64313200-64341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:64313400-64318400	Weak transcription	Adipose Nuclei	Adipose
23	chr2:64313400-64321800	Weak transcription	Brain Angular Gyrus	brain
24	chr2:64313400-64321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:64313600-64317800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:64313600-64320600	Weak transcription	Fetal Lung	lung
27	chr2:64313600-64321800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:64313600-64323000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:64313800-64317000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:64313800-64321800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:64313800-64321800	Weak transcription	NH-A	brain
32	chr2:64314200-64318400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:64314200-64321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:64314200-64321800	Weak transcription	Pancreas	Pancrea
35	chr2:64314400-64321200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:64314400-64325000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:64315000-64317000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:64315000-64321800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:64315200-64317200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr2:64315200-64318400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:64315200-64321800	Weak transcription	Stomach Mucosa	stomach
42	chr2:64315400-64317200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:64315400-64317200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:64315400-64317800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:64315400-64318600	Weak transcription	Fetal Brain Female	brain
46	chr2:64315400-64321800	Weak transcription	HSMMtube	muscle
47	chr2:64315600-64317000	Weak transcription	Thymus	Thymus
48	chr2:64315600-64317200	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:64315600-64318400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:64315600-64318600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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