Variant report

Variant	rs9630263
Chromosome Location	chr12:9832239-9832240
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9799376..9803211-chr12:9829355..9833223,4	MCF-7	breast:
2	chr12:9826075..9828311-chr12:9830788..9832883,2	K562	blood:
3	chr12:9816317..9819269-chr12:9830012..9832319,2	K562	blood:
4	chr12:9824522..9827261-chr12:9829705..9832402,3	MCF-7	breast:
5	chr12:9831108..9832648-chr12:9845793..9848437,2	K562	blood:

Variant related genes	Relation type
ENSG00000256594	Chromatin interaction
ENSG00000256442	Chromatin interaction
ENSG00000213443	Chromatin interaction
ENSG00000069493	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11052233	1.00[AMR][1000 genomes]
rs11052266	1.00[AMR][1000 genomes]
rs11052678	1.00[AMR][1000 genomes]
rs11834388	1.00[AMR][1000 genomes]
rs12297721	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303281	1.00[AMR][1000 genomes]
rs12303925	1.00[AMR][1000 genomes]
rs12311889	1.00[AMR][1000 genomes]
rs12317575	1.00[AMR][1000 genomes]
rs12317691	1.00[AMR][1000 genomes]
rs74062738	1.00[AMR][1000 genomes]
rs74062744	1.00[AMR][1000 genomes]
rs74062748	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9802400-9849800	Weak transcription	Pancreas	Pancrea
2	chr12:9807600-9847200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:9815200-9840600	Weak transcription	Fetal Brain Male	brain
4	chr12:9815200-9841600	Weak transcription	Fetal Kidney	kidney
5	chr12:9815600-9833800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:9816200-9832600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:9816200-9840600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:9817200-9837800	Weak transcription	Aorta	Aorta
9	chr12:9818000-9839200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:9818000-9839800	Weak transcription	Ovary	ovary
11	chr12:9818000-9840000	Weak transcription	Fetal Intestine Large	intestine
12	chr12:9818000-9849800	Weak transcription	Brain Germinal Matrix	brain
13	chr12:9818200-9840000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:9824400-9832600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:9826400-9849000	Weak transcription	Psoas Muscle	Psoas
16	chr12:9826600-9847200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:9826600-9852400	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:9826800-9833400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:9826800-9833800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:9826800-9837400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:9826800-9840000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:9826800-9840600	Weak transcription	HSMMtube	muscle
23	chr12:9826800-9841000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:9826800-9841400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:9826800-9844600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:9826800-9848400	Weak transcription	Colonic Mucosa	Colon
27	chr12:9826800-9849400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:9826800-9849800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:9826800-9854400	Weak transcription	Esophagus	oesophagus
30	chr12:9827000-9832600	Weak transcription	Fetal Lung	lung
31	chr12:9827000-9837400	Weak transcription	Right Ventricle	heart
32	chr12:9827000-9840800	Weak transcription	Adipose Nuclei	Adipose
33	chr12:9827000-9853200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:9827200-9832400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:9827200-9832400	Weak transcription	Fetal Thymus	thymus
36	chr12:9827200-9832400	Weak transcription	K562	blood
37	chr12:9827200-9832600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:9827200-9832600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:9827200-9832800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:9827200-9834000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:9827200-9835000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:9827200-9835000	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:9827200-9837600	Weak transcription	Fetal Heart	heart
44	chr12:9827200-9837800	Weak transcription	Fetal Intestine Small	intestine
45	chr12:9827200-9837800	Weak transcription	Fetal Stomach	stomach
46	chr12:9827200-9837800	Weak transcription	Left Ventricle	heart
47	chr12:9827200-9838400	Weak transcription	Spleen	Spleen
48	chr12:9827200-9840200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:9827200-9840600	Weak transcription	HSMM	muscle
50	chr12:9827200-9841000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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