Variant report

Variant	rs2464798
Chromosome Location	chr12:120308643-120308644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120302541..120304201-chr12:120307024..120309528,2	MCF-7	breast:
2	chr12:120302350..120306271-chr12:120306775..120309464,5	K562	blood:
3	chr12:120306038..120308979-chr12:120311898..120314369,2	MCF-7	breast:
4	chr12:120302681..120304881-chr12:120306791..120311781,4	MCF-7	breast:
5	chr12:120294026..120296847-chr12:120307965..120310392,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122966	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1468330	0.81[EUR][1000 genomes]
rs2141835	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2705948	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][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	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:120254800-120314600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120259200-120311800	Strong transcription	Dnd41	blood
4	chr12:120270400-120314200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:120273200-120309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:120277000-120314400	Weak transcription	Spleen	Spleen
7	chr12:120277200-120314600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:120278400-120313800	Weak transcription	Brain Germinal Matrix	brain
9	chr12:120278600-120313800	Weak transcription	Fetal Brain Female	brain
10	chr12:120279800-120314200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:120279800-120314400	Weak transcription	Primary B cells from cord blood	blood
12	chr12:120286000-120314400	Weak transcription	Placenta	Placenta
13	chr12:120290000-120313800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:120293400-120313600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:120293600-120313600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:120294800-120314200	Weak transcription	Primary T cells from cord blood	blood
17	chr12:120295200-120314200	Weak transcription	Fetal Kidney	kidney
18	chr12:120296000-120310400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:120297400-120312200	Strong transcription	Fetal Stomach	stomach
20	chr12:120299200-120313400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:120299400-120312600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:120299400-120313600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:120300800-120311400	Strong transcription	Thymus	Thymus
24	chr12:120300800-120312400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:120301600-120312400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:120301600-120313200	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr12:120301600-120314000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:120301800-120309800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:120301800-120313400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:120301800-120314000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:120302000-120313600	Strong transcription	Fetal Thymus	thymus
32	chr12:120302400-120310600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr12:120302400-120312400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr12:120302600-120312200	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr12:120303000-120311000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr12:120303000-120314400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr12:120303800-120313600	Strong transcription	K562	blood
38	chr12:120304000-120314000	Weak transcription	Fetal Lung	lung
39	chr12:120304400-120310200	Weak transcription	Fetal Heart	heart
40	chr12:120304600-120312800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:120305600-120314200	Weak transcription	Fetal Intestine Small	intestine
42	chr12:120305600-120314400	Weak transcription	Fetal Brain Male	brain
43	chr12:120305800-120314400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:120306200-120310400	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:120306600-120314400	Weak transcription	Fetal Intestine Large	intestine
46	chr12:120306800-120314000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:120307000-120314000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:120307200-120313800	Weak transcription	GM12878-XiMat	blood
49	chr12:120307200-120314200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:120307400-120313000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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