Variant report

Variant	rs833833
Chromosome Location	chr12:49336805-49336806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49333826..49338604-chr12:49339041..49343164,6	K562	blood:
2	chr12:49335913..49337732-chr12:49340843..49342555,2	K562	blood:
3	chr12:49335548..49339838-chr12:49342673..49348492,5	K562	blood:
4	chr12:49332994..49335617-chr12:49335721..49338299,3	K562	blood:
5	chr12:49335061..49337813-chr12:49345711..49348492,2	K562	blood:
6	chr12:49335338..49338102-chr12:49363046..49364930,2	MCF-7	breast:
7	chr12:49328781..49333204-chr12:49334192..49337825,5	MCF-7	breast:
8	chr12:49334719..49339630-chr12:49347637..49352407,8	MCF-7	breast:
9	chr12:49207436..49209924-chr12:49334897..49337810,2	K562	blood:
10	chr12:49329708..49332921-chr12:49334561..49338029,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167535	Chromatin interaction
ENSG00000255863	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000169884	Chromatin interaction
ENSG00000272822	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7981004	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs833824	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs833826	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs833830	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs863855	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv899067	chr12:49329695-49344508	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr12:49314400-49338000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:49314400-49338600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:49319200-49349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:49319400-49337800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:49319800-49349400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:49320800-49338600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:49321000-49338200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:49321800-49337800	Strong transcription	Fetal Intestine Small	intestine
9	chr12:49322800-49337600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:49322800-49338600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:49323000-49337800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:49323000-49338600	Strong transcription	GM12878-XiMat	blood
13	chr12:49323200-49337800	Strong transcription	Fetal Intestine Large	intestine
14	chr12:49323400-49338600	Strong transcription	HUVEC	blood vessel
15	chr12:49324000-49337800	Strong transcription	Fetal Stomach	stomach
16	chr12:49324400-49337600	Strong transcription	Placenta	Placenta
17	chr12:49324400-49338200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr12:49328400-49338600	Strong transcription	Dnd41	blood
19	chr12:49329400-49337200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:49329400-49337400	Strong transcription	Thymus	Thymus
21	chr12:49329400-49349400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:49330200-49339400	Weak transcription	Fetal Brain Male	brain
23	chr12:49330600-49341400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:49330800-49337200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:49330800-49349000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:49332000-49349000	Weak transcription	Stomach Mucosa	stomach
27	chr12:49332800-49337200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:49332800-49337600	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr12:49333800-49349400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:49334200-49346200	Weak transcription	Fetal Kidney	kidney
31	chr12:49334600-49342200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:49334800-49339800	Weak transcription	Right Atrium	heart
33	chr12:49334800-49340600	Weak transcription	Fetal Lung	lung
34	chr12:49334800-49342600	Weak transcription	K562	blood
35	chr12:49334800-49343600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr12:49334800-49346000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:49334800-49346400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:49334800-49348000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:49334800-49348600	Weak transcription	Small Intestine	intestine
40	chr12:49334800-49349400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:49334800-49349800	Weak transcription	Psoas Muscle	Psoas
42	chr12:49335000-49337000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:49335000-49337200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:49335000-49337200	Weak transcription	Brain Substantia Nigra	brain
45	chr12:49335000-49337600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:49335000-49338000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:49335000-49340000	Weak transcription	Brain Anterior Caudate	brain
48	chr12:49335000-49340400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:49335000-49342200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:49335000-49346200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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