Variant report

Variant	rs7301596
Chromosome Location	chr12:1609142-1609143
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1603741..1607368-chr12:1607408..1611728,5	K562	blood:
2	chr12:1608089..1610158-chr12:1624609..1627312,2	K562	blood:
3	chr12:1571885..1573568-chr12:1607878..1609868,2	K562	blood:
4	chr12:1607941..1609659-chr12:1618774..1621179,2	K562	blood:
5	chr12:1603741..1607368-chr12:1607408..1611542,6	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11834055	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2369852	1.00[JPT][hapmap]
rs55800554	1.00[ASN][1000 genomes]
rs7302353	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73041300	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73043009	1.00[ASN][1000 genomes]
rs929315	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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 target site	46 gene(s)	inside rSNPs	diseases
2	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
3	nsv1046134	chr12:1153489-1675223	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541344	chr12:1153489-1675223	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active 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	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
6	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
7	nsv1054178	chr12:1372157-1682699	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
8	nsv541347	chr12:1372157-1682699	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	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
10	nsv1049247	chr12:1566534-1671806	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1049391	chr12:1589463-1622803	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1051478	chr12:1590503-1626412	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv556950	chr12:1603428-1638868	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	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
15	nsv1039629	chr12:1608565-1681391	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv541349	chr12:1608565-1681391	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1598400-1610200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:1598400-1610800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:1600800-1612600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:1600800-1613600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:1601200-1609400	Weak transcription	Hela-S3	cervix
6	chr12:1602000-1609400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:1602000-1609400	Weak transcription	Fetal Brain Male	brain
8	chr12:1602000-1609400	Weak transcription	Thymus	Thymus
9	chr12:1602200-1609400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:1602200-1609400	Weak transcription	Brain Anterior Caudate	brain
11	chr12:1602200-1611400	Weak transcription	Fetal Brain Female	brain
12	chr12:1602200-1613800	Weak transcription	Primary B cells from cord blood	blood
13	chr12:1603400-1611400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:1603600-1609400	Weak transcription	Spleen	Spleen
15	chr12:1603600-1609400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:1603600-1609600	Weak transcription	Left Ventricle	heart
17	chr12:1603600-1611200	Weak transcription	Brain Germinal Matrix	brain
18	chr12:1604800-1613400	Weak transcription	Primary T cells from cord blood	blood
19	chr12:1605000-1611600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:1605000-1611800	Weak transcription	Fetal Intestine Small	intestine
21	chr12:1606000-1609200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:1606000-1609400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:1606000-1609400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:1606000-1609400	Weak transcription	Esophagus	oesophagus
25	chr12:1606000-1609600	Weak transcription	Right Ventricle	heart
26	chr12:1606000-1609600	Enhancers	HSMM	muscle
27	chr12:1606000-1611200	Weak transcription	Colonic Mucosa	Colon
28	chr12:1606000-1611200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:1606200-1609200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:1606200-1609200	Weak transcription	Brain Substantia Nigra	brain
31	chr12:1606200-1609400	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:1606200-1611000	Weak transcription	Fetal Lung	lung
33	chr12:1606200-1611400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:1606200-1611800	Weak transcription	NHEK	skin
35	chr12:1606400-1609200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:1606400-1609400	Weak transcription	HMEC	breast
37	chr12:1606400-1611000	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:1606600-1609200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:1606600-1609400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:1606600-1609400	Weak transcription	Placenta	Placenta
41	chr12:1606600-1609400	Weak transcription	Ovary	ovary
42	chr12:1606600-1610000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:1607200-1609200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:1607200-1609400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:1607200-1611800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:1607200-1613800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:1607400-1609200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:1607400-1609800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:1607400-1611200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:1607600-1609200	Enhancers	Muscle Satellite Cultured Cells	--

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