Variant report

Variant	rs2240506
Chromosome Location	chr12:1698010-1698011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1694282..1696400-chr12:1697467..1699380,2	K562	blood:
2	chr12:1215657..1217176-chr12:1696777..1699113,2	MCF-7	breast:
3	chr12:1697712..1699251-chr12:1703225..1705449,2	K562	blood:
4	chr12:1691367..1694313-chr12:1697281..1700440,3	MCF-7	breast:
5	chr12:1697201..1698712-chr12:1701709..1703487,2	MCF-7	breast:
6	chr12:1697332..1701381-chr12:1702277..1705597,9	MCF-7	breast:
7	chr12:1693823..1696197-chr12:1697644..1701450,4	MCF-7	breast:
8	chr12:1694159..1696400-chr12:1697880..1699640,2	K562	blood:

Variant related genes	Relation type
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4766395	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs7308793	0.86[CHB][hapmap];0.88[CHD][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	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv470258	chr12:1670493-1698010	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv898586	chr12:1690140-1734365	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1685600-1699600	Weak transcription	Esophagus	oesophagus
2	chr12:1685800-1699800	Weak transcription	Right Ventricle	heart
3	chr12:1687000-1699200	Weak transcription	Pancreas	Pancrea
4	chr12:1687000-1699600	Weak transcription	Ovary	ovary
5	chr12:1690400-1701000	Weak transcription	Gastric	stomach
6	chr12:1690600-1699800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:1690800-1699600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:1690800-1699800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:1691000-1698600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:1691000-1699800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:1691200-1699800	Weak transcription	Lung	lung
12	chr12:1691800-1699600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:1691800-1699800	Weak transcription	Placenta	Placenta
14	chr12:1692600-1699600	Weak transcription	Psoas Muscle	Psoas
15	chr12:1692800-1698800	Weak transcription	Fetal Kidney	kidney
16	chr12:1692800-1699600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:1692800-1699600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:1693000-1698800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:1693000-1698800	Weak transcription	Hela-S3	cervix
20	chr12:1693000-1699400	Weak transcription	HepG2	liver
21	chr12:1693000-1700200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:1693200-1699000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:1695400-1698800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:1695600-1698200	Enhancers	Brain Hippocampus Middle	brain
25	chr12:1695800-1699200	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:1696000-1699400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:1696000-1699800	Weak transcription	Primary B cells from cord blood	blood
28	chr12:1696200-1699000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:1696200-1699200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:1696400-1699000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
31	chr12:1696400-1699000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr12:1696400-1699200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:1696400-1699600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:1696600-1698200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:1696600-1698200	Enhancers	NHDF-Ad	bronchial
36	chr12:1696600-1698400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr12:1696600-1698400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:1696600-1698400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
39	chr12:1696600-1698600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:1696600-1698800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:1696600-1698800	Enhancers	Brain Anterior Caudate	brain
42	chr12:1696600-1699000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:1696600-1699200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:1696600-1699200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:1696600-1699200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr12:1696600-1699400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr12:1696600-1699400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr12:1696600-1699400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:1696600-1699400	Enhancers	Adipose Nuclei	Adipose
50	chr12:1696600-1699400	Enhancers	NH-A	brain

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