Variant report

Variant	rs61941109
Chromosome Location	chr12:49238189-49238190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49214890..49217423-chr12:49238073..49240849,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167535	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10875880	0.81[EUR][1000 genomes]
rs11168756	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11168758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28735279	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49215200-49243800	Strong transcription	Fetal Stomach	stomach
2	chr12:49215600-49240000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:49216200-49240200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:49216800-49238600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:49216800-49240000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:49216800-49240000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:49216800-49244600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:49217000-49243800	Strong transcription	Fetal Intestine Small	intestine
9	chr12:49217400-49241000	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:49218200-49241200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:49220000-49239800	Strong transcription	Spleen	Spleen
12	chr12:49220000-49240000	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr12:49220000-49241200	Strong transcription	Lung	lung
14	chr12:49221200-49243800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:49221800-49243200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:49222600-49244200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:49227000-49244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:49230400-49244200	Weak transcription	Fetal Heart	heart
19	chr12:49233400-49243600	Weak transcription	Stomach Mucosa	stomach
20	chr12:49234000-49239400	Weak transcription	Fetal Brain Male	brain
21	chr12:49234000-49244000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:49234000-49244200	Weak transcription	NHDF-Ad	bronchial
23	chr12:49234000-49244400	Weak transcription	Psoas Muscle	Psoas
24	chr12:49234200-49239200	Weak transcription	Esophagus	oesophagus
25	chr12:49234200-49244400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:49236800-49240200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:49236800-49241800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:49236800-49243800	Strong transcription	Thymus	Thymus
29	chr12:49237000-49238200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:49237000-49238200	Strong transcription	HSMMtube	muscle
31	chr12:49237000-49238400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:49237000-49239800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:49237000-49239800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:49237000-49239800	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr12:49237000-49239800	Strong transcription	Adipose Nuclei	Adipose
36	chr12:49237000-49239800	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr12:49237000-49239800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr12:49237000-49240000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr12:49237000-49240000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:49237000-49240000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:49237000-49240000	Strong transcription	Ovary	ovary
42	chr12:49237000-49240000	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr12:49237000-49240200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:49237000-49240200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:49237000-49240200	Strong transcription	Colonic Mucosa	Colon
46	chr12:49237000-49240200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:49237000-49240400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:49237000-49240400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:49237000-49240400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:49237000-49240600	Strong transcription	Primary T cells fromperipheralblood	blood

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