Variant report

Variant	rs11829991
Chromosome Location	chr12:104509358-104509359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104508030..104510211-chr12:104530373..104532165,2	MCF-7	breast:
2	chr12:104501111..104503090-chr12:104506610..104509450,2	K562	blood:
3	chr12:104503448..104507553-chr12:104508039..104511568,3	MCF-7	breast:
4	chr12:104507571..104510330-chr12:104531194..104533497,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17035201	0.89[ASW][hapmap];1.00[MEX][hapmap]
rs4135120	1.00[MEX][hapmap]

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	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv1823607	chr12:104506318-104549541	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
2	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
3	chr12:104492000-104512400	Weak transcription	HMEC	breast
4	chr12:104493200-104512400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:104493200-104514400	Weak transcription	NHEK	skin
6	chr12:104493400-104511800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:104493400-104513400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:104493400-104514400	Weak transcription	Brain Substantia Nigra	brain
9	chr12:104493400-104519200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:104493400-104519800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:104493600-104510800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:104493600-104517400	Weak transcription	Right Ventricle	heart
13	chr12:104493800-104515400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:104493800-104518400	Weak transcription	Gastric	stomach
15	chr12:104493800-104530600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:104494400-104513600	Weak transcription	Brain Germinal Matrix	brain
17	chr12:104494400-104514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:104494400-104516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:104494400-104516200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:104494400-104521000	Weak transcription	Lung	lung
21	chr12:104494400-104521200	Weak transcription	Aorta	Aorta
22	chr12:104494400-104522600	Weak transcription	Spleen	Spleen
23	chr12:104494600-104516000	Weak transcription	Fetal Stomach	stomach
24	chr12:104495600-104510800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:104495600-104514200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:104495600-104530800	Weak transcription	Esophagus	oesophagus
27	chr12:104497000-104509600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:104497000-104514200	Weak transcription	NHLF	lung
29	chr12:104497000-104516000	Weak transcription	Ovary	ovary
30	chr12:104497000-104516200	Weak transcription	Left Ventricle	heart
31	chr12:104497000-104524600	Weak transcription	Pancreas	Pancrea
32	chr12:104497200-104511400	Weak transcription	NH-A	brain
33	chr12:104497400-104513400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:104501200-104510800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:104501200-104512400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:104501200-104514800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:104501200-104519000	Weak transcription	K562	blood
38	chr12:104501400-104509400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:104501400-104510600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:104501400-104510600	Weak transcription	Adipose Nuclei	Adipose
41	chr12:104501400-104516000	Weak transcription	Fetal Muscle Leg	muscle
42	chr12:104501600-104510400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:104501600-104510800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:104501600-104514400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr12:104501800-104509600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:104501800-104510400	Weak transcription	NHDF-Ad	bronchial
47	chr12:104502800-104526200	Weak transcription	Psoas Muscle	Psoas
48	chr12:104503000-104510600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:104503000-104512000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:104503000-104516000	Weak transcription	Thymus	Thymus

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