Variant report

Variant	rs556416154
Chromosome Location	chr2:32515768-32515769
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:32501457..32504266-chr2:32514900..32518448,3	MCF-7	breast:
2	chr2:32507841..32511322-chr2:32512913..32517224,5	K562	blood:
3	chr2:32393531..32396327-chr2:32515532..32517225,2	K562	blood:
4	chr2:32503251..32505262-chr2:32514941..32516694,2	K562	blood:
5	chr2:32514023..32515900-chr2:32531740..32534378,2	K562	blood:
6	chr2:32513925..32516156-chr2:32518706..32520231,2	K562	blood:
7	chr2:32515485..32518593-chr2:32527074..32529766,3	K562	blood:
8	chr2:32508753..32512437-chr2:32515298..32518048,3	K562	blood:
9	chr2:32511764..32514453-chr2:32515408..32518077,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119820	Chromatin interaction

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	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS 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	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv1002120	chr2:32470452-32539443	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1004279	chr2:32470452-32543369	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats 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 miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32503600-32518600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:32503800-32520400	Weak transcription	Spleen	Spleen
3	chr2:32504000-32516800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:32504000-32516800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:32504000-32516800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:32504000-32520200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:32504000-32520600	Weak transcription	Aorta	Aorta
8	chr2:32504000-32531200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:32504000-32537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:32504000-32540200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:32504000-32549400	Weak transcription	HSMMtube	muscle
12	chr2:32504200-32516800	Weak transcription	HSMM	muscle
13	chr2:32504200-32520000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:32504200-32520200	Weak transcription	Fetal Kidney	kidney
15	chr2:32504200-32520400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:32504200-32524400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:32504400-32516400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:32504400-32520200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:32504400-32520200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:32504800-32537600	Weak transcription	Fetal Brain Male	brain
21	chr2:32507400-32516600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:32507400-32520200	Weak transcription	Fetal Lung	lung
23	chr2:32507600-32516600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:32507600-32520200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:32507600-32528000	Weak transcription	GM12878-XiMat	blood
26	chr2:32507800-32517800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:32507800-32520000	Weak transcription	Brain Germinal Matrix	brain
28	chr2:32507800-32550000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:32508200-32519000	Weak transcription	Lung	lung
30	chr2:32508400-32517000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:32508400-32519200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:32508400-32534200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:32509800-32515800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:32510000-32516000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:32510000-32516200	Weak transcription	Fetal Stomach	stomach
36	chr2:32510000-32520200	Weak transcription	Brain Substantia Nigra	brain
37	chr2:32510000-32528200	Weak transcription	Esophagus	oesophagus
38	chr2:32510200-32516400	Weak transcription	Fetal Brain Female	brain
39	chr2:32510200-32516400	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:32510200-32519000	Weak transcription	Thymus	Thymus
41	chr2:32510200-32520400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:32510200-32525800	Weak transcription	K562	blood
43	chr2:32510200-32528200	Weak transcription	Pancreas	Pancrea
44	chr2:32510200-32528200	Weak transcription	Right Ventricle	heart
45	chr2:32510400-32516000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:32510600-32516200	Weak transcription	Fetal Heart	heart
47	chr2:32510800-32520000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:32510800-32520400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:32511000-32516000	Weak transcription	Placenta	Placenta
50	chr2:32512400-32517600	Weak transcription	Fetal Intestine Small	intestine

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