Variant report

Variant	rs2942377
Chromosome Location	chr12:122154514-122154515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122152731..122155378-chr12:122233490..122235534,2	MCF-7	breast:
2	chr12:122151917..122156679-chr12:122158990..122161990,5	MCF-7	breast:
3	chr12:122154279..122156536-chr12:122192092..122194688,2	MCF-7	breast:
4	chr12:122147215..122155218-chr12:122185094..122190846,22	MCF-7	breast:
5	chr12:122149668..122153356-chr12:122153508..122157452,6	K562	blood:
6	chr12:122150615..122153194-chr12:122153260..122155057,3	K562	blood:

Variant related genes	Relation type
ENSG00000188735	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000272849	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11043184	0.82[EUR][1000 genomes]
rs2458404	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2669172	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2720036	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2942375	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2942376	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2942378	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs884885	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs925530	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9804982	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[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:98 , 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	chr12:122151800-122154800	Weak transcription	Fetal Kidney	kidney
4	chr12:122151800-122155000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:122151800-122155200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:122151800-122158000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:122151800-122159200	Weak transcription	Esophagus	oesophagus
8	chr12:122151800-122160600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:122152000-122154600	Weak transcription	HUVEC	blood vessel
10	chr12:122152000-122154800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:122152000-122154800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:122152000-122156600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:122152000-122161200	Weak transcription	Gastric	stomach
14	chr12:122152000-122162600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:122152000-122164000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:122152000-122164000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:122152000-122164600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:122152000-122166400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:122152000-122167400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:122152000-122182200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:122152000-122188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:122152200-122154600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:122152200-122154600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:122152200-122154800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:122152200-122154800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:122152200-122154800	Weak transcription	Fetal Thymus	thymus
27	chr12:122152200-122154800	Weak transcription	Spleen	Spleen
28	chr12:122152200-122154800	Weak transcription	HSMMtube	muscle
29	chr12:122152200-122154800	Weak transcription	NHDF-Ad	bronchial
30	chr12:122152200-122155000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:122152200-122155000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:122152200-122155000	Weak transcription	NHLF	lung
33	chr12:122152200-122155600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr12:122152200-122157800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:122152200-122157800	Weak transcription	HMEC	breast
36	chr12:122152200-122160600	Weak transcription	Left Ventricle	heart
37	chr12:122152200-122161200	Weak transcription	Right Atrium	heart
38	chr12:122152200-122162800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:122152200-122162800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:122152200-122162800	Weak transcription	Liver	Liver
41	chr12:122152200-122165000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:122152200-122166600	Weak transcription	Ovary	ovary
43	chr12:122152200-122181600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:122152200-122181800	Weak transcription	Right Ventricle	heart
45	chr12:122152200-122186400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:122152200-122188000	Weak transcription	Brain Germinal Matrix	brain
47	chr12:122152200-122188000	Weak transcription	Dnd41	blood
48	chr12:122152200-122191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:122152200-122191600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:122152200-122200200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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