Variant report

Variant	rs41363351
Chromosome Location	chr2:46948702-46948703
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46924560..46926945-chr2:46947357..46950271,2	MCF-7	breast:
2	chr2:46944884..46947962-chr2:46948655..46951641,3	K562	blood:
3	chr2:46946506..46948828-chr2:46997236..46999160,2	K562	blood:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10495938	0.87[AMR][1000 genomes]
rs11892177	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11893159	0.87[AMR][1000 genomes]
rs11893443	0.83[AMR][1000 genomes]
rs11893955	0.84[AMR][1000 genomes]
rs17035540	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17772309	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17821941	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17822668	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17822704	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41320947	0.87[AMR][1000 genomes]
rs41349351	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41375646	0.87[AMR][1000 genomes]
rs41379147	0.87[AMR][1000 genomes]
rs41432848	0.87[AMR][1000 genomes]
rs41478946	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6749450	0.84[AMR][1000 genomes]
rs7591613	0.87[AMR][1000 genomes]
rs9677705	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46945400-46950800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:46945400-46952600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:46945400-46953400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:46945400-46985400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:46946200-46949600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:46946400-46949000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr2:46946400-46949000	Enhancers	Fetal Heart	heart
8	chr2:46946600-46949600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:46946600-46951800	Enhancers	Colon Smooth Muscle	Colon
10	chr2:46946800-46953000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:46947000-46954600	Weak transcription	HUVEC	blood vessel
12	chr2:46947000-46954800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:46947200-46949000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:46947200-46949000	Enhancers	Brain Substantia Nigra	brain
15	chr2:46947400-46949000	Enhancers	Brain Hippocampus Middle	brain
16	chr2:46947600-46948800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:46947600-46948800	Enhancers	Brain Germinal Matrix	brain
18	chr2:46947600-46949000	Enhancers	Small Intestine	intestine
19	chr2:46947600-46975600	Weak transcription	HSMM	muscle
20	chr2:46947800-46948800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:46947800-46948800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:46947800-46948800	Enhancers	Adipose Nuclei	Adipose
23	chr2:46947800-46948800	Enhancers	Brain Anterior Caudate	brain
24	chr2:46947800-46949000	Enhancers	Liver	Liver
25	chr2:46947800-46950800	Enhancers	Fetal Lung	lung
26	chr2:46947800-46952200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr2:46947800-46952600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:46948000-46951200	Weak transcription	Primary B cells from cord blood	blood
29	chr2:46948000-46954600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:46948000-46954600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:46948000-46954600	Weak transcription	Thymus	Thymus
32	chr2:46948200-46948800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:46948200-46949400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:46948200-46949400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:46948200-46950000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:46948200-46950600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:46948200-46950600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:46948200-46950600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:46948200-46950800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:46948200-46950800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:46948200-46950800	Enhancers	NHLF	lung
42	chr2:46948200-46951000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:46948200-46951400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:46948200-46951800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:46948200-46952400	Enhancers	NHDF-Ad	bronchial
46	chr2:46948200-46953000	Enhancers	A549	lung
47	chr2:46948200-46954400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:46948200-46954600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:46948200-46954600	Weak transcription	Left Ventricle	heart
50	chr2:46948200-46954600	Weak transcription	Right Ventricle	heart

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