Variant report

Variant	rs61019176
Chromosome Location	chr12:104516486-104516487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr12:104516386-104516672	HepG2	liver:	n/a	n/a
2	MAFK	chr12:104516450-104516656	IMR90	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104515373..104518868-chr12:104529903..104532012,3	K562	blood:
2	chr12:104510515..104519727-chr12:104525085..104533754,15	MCF-7	breast:
3	chr12:104513649..104515856-chr12:104516374..104518763,2	MCF-7	breast:
4	chr12:104515519..104518229-chr12:104522556..104526007,3	MCF-7	breast:
5	chr12:104515821..104520913-chr12:104521669..104524751,4	K562	blood:

No data

Variant related genes	Relation type
RNA5SP370	TF binding region
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11834648	0.89[AFR][1000 genomes]
rs73392514	0.92[AFR][1000 genomes]
rs73392518	0.92[AFR][1000 genomes]
rs73392520	0.92[AFR][1000 genomes]
rs73392526	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv1816017	chr12:104510676-104531860	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
2	chr12:104493400-104519200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:104493400-104519800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:104493600-104517400	Weak transcription	Right Ventricle	heart
5	chr12:104493800-104518400	Weak transcription	Gastric	stomach
6	chr12:104493800-104530600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:104494400-104521000	Weak transcription	Lung	lung
8	chr12:104494400-104521200	Weak transcription	Aorta	Aorta
9	chr12:104494400-104522600	Weak transcription	Spleen	Spleen
10	chr12:104495600-104530800	Weak transcription	Esophagus	oesophagus
11	chr12:104497000-104524600	Weak transcription	Pancreas	Pancrea
12	chr12:104501200-104519000	Weak transcription	K562	blood
13	chr12:104502800-104526200	Weak transcription	Psoas Muscle	Psoas
14	chr12:104503200-104519800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:104507200-104528000	Strong transcription	Placenta	Placenta
16	chr12:104508000-104527000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:104508000-104528800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:104508200-104525000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:104508200-104525400	Strong transcription	Dnd41	blood
20	chr12:104508200-104525600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:104508200-104526200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr12:104508200-104526800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr12:104508200-104529200	Strong transcription	Fetal Thymus	thymus
24	chr12:104508400-104528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:104508600-104529000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:104508800-104519000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:104509000-104516800	Strong transcription	Fetal Intestine Large	intestine
28	chr12:104509000-104516800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:104509000-104518000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:104509000-104528600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr12:104509600-104527000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:104509800-104528600	Weak transcription	Small Intestine	intestine
33	chr12:104510000-104518200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:104510000-104521600	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:104510000-104524600	Weak transcription	Fetal Brain Male	brain
36	chr12:104510000-104524600	Weak transcription	Stomach Mucosa	stomach
37	chr12:104510200-104526000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr12:104510600-104524000	Strong transcription	Adipose Nuclei	Adipose
39	chr12:104510600-104524600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:104510600-104527000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:104510800-104527200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr12:104510800-104528600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:104511000-104520600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:104511200-104523600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:104511400-104525600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:104511600-104517200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:104511600-104523200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr12:104512600-104522600	Weak transcription	Brain Angular Gyrus	brain
49	chr12:104513000-104518800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:104513000-104519400	Weak transcription	Rectal Smooth Muscle	rectum

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