Variant report

Variant	rs138684729
Chromosome Location	chr2:46946023-46946024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46944884..46947962-chr2:46948655..46951641,3	K562	blood:
2	chr2:46923183..46926073-chr2:46944483..46946206,2	K562	blood:
3	chr2:46924864..46926962-chr2:46945163..46948583,3	MCF-7	breast:
4	chr2:46926353..46928054-chr2:46945073..46946618,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
6	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2639866	chr2:46945257-46946677	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46928800-46946200	Weak transcription	NHEK	skin
2	chr2:46934000-46947800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:46934600-46946400	Weak transcription	HSMM	muscle
4	chr2:46936800-46946200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:46940600-46946400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:46942400-46947800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:46942800-46946400	Weak transcription	HUVEC	blood vessel
8	chr2:46942800-46948600	Enhancers	NH-A	brain
9	chr2:46943800-46947800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:46943800-46948000	Weak transcription	Fetal Stomach	stomach
11	chr2:46944000-46946400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:46944000-46946600	Weak transcription	Fetal Thymus	thymus
13	chr2:46944200-46946600	Weak transcription	Thymus	Thymus
14	chr2:46944200-46948200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:46944400-46947800	Weak transcription	Left Ventricle	heart
16	chr2:46944400-46947800	Weak transcription	Pancreas	Pancrea
17	chr2:46944600-46946200	Weak transcription	Primary B cells from cord blood	blood
18	chr2:46944600-46946600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:46944600-46947800	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:46945000-46947200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:46945000-46948000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:46945200-46946400	Weak transcription	HepG2	liver
23	chr2:46945200-46946600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:46945200-46946600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:46945200-46946600	Weak transcription	Small Intestine	intestine
26	chr2:46945200-46946800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:46945200-46946800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:46945200-46947200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:46945200-46947200	Enhancers	Primary T cells from cord blood	blood
30	chr2:46945200-46947600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:46945200-46947800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:46945200-46947800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:46945200-46947800	Weak transcription	Aorta	Aorta
34	chr2:46945200-46947800	Weak transcription	Right Atrium	heart
35	chr2:46945200-46948600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr2:46945400-46946200	Weak transcription	Stomach Mucosa	stomach
37	chr2:46945400-46946400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:46945400-46946600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:46945400-46946600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:46945400-46946600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:46945400-46946600	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:46945400-46946600	Weak transcription	Right Ventricle	heart
43	chr2:46945400-46946600	Weak transcription	HSMMtube	muscle
44	chr2:46945400-46947200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:46945400-46947400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:46945400-46947400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:46945400-46947400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:46945400-46947600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:46945400-46947800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:46945400-46947800	Weak transcription	Adipose Nuclei	Adipose

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