Variant report

Variant	rs12321633
Chromosome Location	chr12:51395832-51395833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr12:51395705-51395841	MCF10A-Er-Src	breast:	n/a	n/a
2	BACH1	chr12:51395645-51395955	K562	blood:	n/a	n/a
3	MAFF	chr12:51395619-51395930	K562	blood:	n/a	n/a
4	EP300	chr12:51395625-51395886	K562	blood:	n/a	n/a
5	RCOR1	chr12:51395685-51395878	K562	blood:	n/a	n/a
6	MAFK	chr12:51395626-51395912	K562	blood:	n/a	chr12:51395781-51395795 chr12:51395675-51395692 chr12:51395787-51395796 chr12:51395782-51395798 chr12:51395782-51395793 chr12:51395783-51395794 chr12:51395782-51395793
7	ZNF384	chr12:51395650-51395925	K562	blood:	n/a	n/a
8	TAL1	chr12:51395625-51395841	K562	blood:	n/a	n/a
9	POLR2A	chr12:51395743-51395868	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51384221..51386732-chr12:51393559..51396729,3	MCF-7	breast:
2	chr12:51395457..51398981-chr12:51402269..51404576,3	MCF-7	breast:

Variant related genes	Relation type
SLC11A2	TF binding region
ENSG00000110911	Chromatin interaction

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

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

rs_ID	r²[population]
rs12308794	1.00[YRI][hapmap]
rs12311435	1.00[YRI][hapmap]
rs12320527	1.00[YRI][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51378000-51401800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:51378600-51399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:51378800-51396000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:51379400-51396000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:51379400-51396200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:51379800-51396400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:51380000-51396200	Strong transcription	Dnd41	blood
8	chr12:51380200-51396400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:51380200-51396600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:51380200-51401800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr12:51380200-51402200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr12:51380400-51396200	Strong transcription	Fetal Brain Female	brain
13	chr12:51380400-51396200	Strong transcription	Placenta	Placenta
14	chr12:51380600-51399600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:51381200-51402200	Strong transcription	Fetal Thymus	thymus
16	chr12:51381200-51402200	Weak transcription	Psoas Muscle	Psoas
17	chr12:51381200-51402400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:51381200-51403000	Strong transcription	Fetal Muscle Leg	muscle
19	chr12:51381400-51396400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:51381400-51403000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:51381800-51401600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:51381800-51401600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:51381800-51402400	Strong transcription	Liver	Liver
24	chr12:51382000-51396400	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:51382000-51402000	Strong transcription	Fetal Stomach	stomach
26	chr12:51382000-51402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:51382400-51399400	Strong transcription	Fetal Intestine Large	intestine
28	chr12:51382600-51399400	Strong transcription	Fetal Intestine Small	intestine
29	chr12:51385600-51402600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:51386000-51406600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:51386000-51414200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:51386200-51398800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:51386800-51402200	Weak transcription	Right Atrium	heart
34	chr12:51387000-51396200	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr12:51388000-51401000	Strong transcription	Primary T cells from cord blood	blood
36	chr12:51388200-51396200	Strong transcription	Brain Substantia Nigra	brain
37	chr12:51388200-51396200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr12:51388200-51402000	Strong transcription	Adipose Nuclei	Adipose
39	chr12:51388400-51396200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:51388600-51406600	Weak transcription	Small Intestine	intestine
41	chr12:51389400-51405400	Weak transcription	Esophagus	oesophagus
42	chr12:51390000-51396200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:51390000-51400400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:51390000-51405800	Weak transcription	Stomach Mucosa	stomach
45	chr12:51390200-51398200	Weak transcription	Colonic Mucosa	Colon
46	chr12:51390600-51397600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:51390800-51397800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:51390800-51398200	Weak transcription	HSMMtube	muscle
49	chr12:51390800-51398200	Weak transcription	HUVEC	blood vessel
50	chr12:51390800-51398400	Weak transcription	Right Ventricle	heart

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