Variant report

Variant	rs9651793
Chromosome Location	chr12:122159639-122159640
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121837107..121838879-chr12:122158045..122160589,2	K562	blood:
2	chr12:122151917..122156679-chr12:122158990..122161990,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170633	Chromatin interaction
ENSG00000089053	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61952240	0.94[ASN][1000 genomes]
rs61952255	0.85[ASN][1000 genomes]
rs9805066	0.94[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122151600-122160800	Weak transcription	Aorta	Aorta
2	chr12:122151600-122186200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:122151800-122160600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:122152000-122161200	Weak transcription	Gastric	stomach
5	chr12:122152000-122162600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:122152000-122164000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:122152000-122164000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:122152000-122164600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:122152000-122166400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:122152000-122167400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:122152000-122182200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:122152000-122188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:122152200-122160600	Weak transcription	Left Ventricle	heart
14	chr12:122152200-122161200	Weak transcription	Right Atrium	heart
15	chr12:122152200-122162800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:122152200-122162800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:122152200-122162800	Weak transcription	Liver	Liver
18	chr12:122152200-122165000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:122152200-122166600	Weak transcription	Ovary	ovary
20	chr12:122152200-122181600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:122152200-122181800	Weak transcription	Right Ventricle	heart
22	chr12:122152200-122186400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:122152200-122188000	Weak transcription	Brain Germinal Matrix	brain
24	chr12:122152200-122188000	Weak transcription	Dnd41	blood
25	chr12:122152200-122191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:122152200-122191600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:122152200-122200200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:122152400-122161800	Weak transcription	Fetal Brain Male	brain
29	chr12:122152400-122171600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:122152400-122188000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:122152800-122169200	Weak transcription	Fetal Brain Female	brain
32	chr12:122152800-122186200	Weak transcription	Pancreas	Pancrea
33	chr12:122153600-122166400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:122154000-122162800	Weak transcription	Brain Anterior Caudate	brain
35	chr12:122154000-122182200	Weak transcription	Primary T cells from cord blood	blood
36	chr12:122154200-122165200	Weak transcription	Fetal Intestine Large	intestine
37	chr12:122154200-122200400	Weak transcription	Psoas Muscle	Psoas
38	chr12:122155000-122165200	Weak transcription	HepG2	liver
39	chr12:122155200-122167000	Weak transcription	Lung	lung
40	chr12:122155200-122170000	Weak transcription	Adipose Nuclei	Adipose
41	chr12:122155200-122181600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:122155200-122182400	Weak transcription	NHEK	skin
43	chr12:122155200-122186400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:122155400-122162600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:122155400-122162800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:122155400-122166400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:122155400-122166600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:122155400-122169400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:122155400-122178600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:122155600-122163000	Weak transcription	HSMMtube	muscle

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