Variant report

Variant	rs1368949
Chromosome Location	chr2:110402798-110402799
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:110370341..110372607-chr2:110402499..110404064,2	MCF-7	breast:
2	chr2:110402319..110402911-chr2:110411810..110412405,2	MCF-7	breast:
3	chr2:110393131..110396095-chr2:110402079..110403755,2	MCF-7	breast:
4	chr2:110373614..110376215-chr2:110402569..110405240,2	MCF-7	breast:
5	chr2:110370732..110372780-chr2:110400593..110403257,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198142	Chromatin interaction
ENSG00000186522	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs28630495	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57538421	0.82[EUR][1000 genomes]
rs58149954	0.82[EUR][1000 genomes]
rs72826820	0.82[EUR][1000 genomes]
rs72826823	0.82[EUR][1000 genomes]
rs7580778	1.00[CHB][hapmap]

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	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
6	nsv1009367	chr2:110349178-110863354	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv2762780	chr2:110367969-110462496	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv491837	chr2:110381297-110964737	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv999552	chr2:110396395-110978224	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110400600-110403800	Enhancers	Fetal Intestine Large	intestine
2	chr2:110400600-110406600	Enhancers	Placenta	Placenta
3	chr2:110400800-110403200	Enhancers	Fetal Intestine Small	intestine
4	chr2:110401000-110403800	Enhancers	Pancreas	Pancrea
5	chr2:110401400-110404000	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:110401600-110402800	Enhancers	GM12878-XiMat	blood
7	chr2:110401800-110402800	Flanking Active TSS	Liver	Liver
8	chr2:110401800-110402800	Enhancers	Duodenum Mucosa	Duodenum
9	chr2:110401800-110402800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:110401800-110402800	Enhancers	Osteobl	bone
11	chr2:110401800-110403000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:110401800-110403000	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr2:110401800-110403000	Enhancers	Stomach Mucosa	stomach
14	chr2:110401800-110403200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:110401800-110403200	Enhancers	Fetal Muscle Leg	muscle
16	chr2:110401800-110403400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:110401800-110403400	Enhancers	NHEK	skin
18	chr2:110401800-110403600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:110401800-110403600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:110401800-110403600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:110401800-110403800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:110401800-110403800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:110401800-110403800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:110401800-110404000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:110402000-110402800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:110402000-110402800	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr2:110402000-110402800	Enhancers	A549	lung
28	chr2:110402000-110403000	Enhancers	Brain Hippocampus Middle	brain
29	chr2:110402000-110403000	Enhancers	Fetal Heart	heart
30	chr2:110402000-110403000	Enhancers	Fetal Stomach	stomach
31	chr2:110402000-110403000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr2:110402000-110403200	Enhancers	Fetal Lung	lung
33	chr2:110402000-110403800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:110402000-110403800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:110402000-110403800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:110402000-110403800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:110402000-110404000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:110402000-110404000	Enhancers	Fetal Kidney	kidney
39	chr2:110402200-110402800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:110402200-110402800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:110402200-110402800	Enhancers	Brain Angular Gyrus	brain
42	chr2:110402200-110402800	Enhancers	Lung	lung
43	chr2:110402200-110402800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr2:110402200-110403000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:110402200-110403000	Enhancers	Fetal Brain Female	brain
46	chr2:110402200-110403000	Enhancers	Fetal Thymus	thymus
47	chr2:110402200-110403600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr2:110402200-110403600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:110402200-110403800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:110402200-110403800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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