Variant report

Variant	rs71464944
Chromosome Location	chr12:49335272-49335273
allele	C/T
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	chr12:49327847..49329795-chr12:49334116..49336401,2	K562	blood:
3	chr12:49335061..49337813-chr12:49345711..49348492,2	K562	blood:
4	chr12:49328781..49333204-chr12:49334192..49337825,5	MCF-7	breast:
5	chr12:49334719..49339630-chr12:49347637..49352407,8	MCF-7	breast:
6	chr12:49258244..49260897-chr12:49333538..49336282,2	MCF-7	breast:
7	chr12:49331421..49333688-chr12:49334182..49336584,2	K562	blood:
8	chr12:49207436..49209924-chr12:49334897..49337810,2	K562	blood:
9	chr12:49329708..49332921-chr12:49334561..49338029,3	K562	blood:
10	chr12:49324577..49326698-chr12:49333742..49335694,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172602	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000272822	Chromatin interaction
ENSG00000255863	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11168810	1.00[EUR][1000 genomes]
rs12122	1.00[EUR][1000 genomes]
rs12829682	0.86[EUR][1000 genomes]
rs2694841	1.00[EUR][1000 genomes]
rs41291977	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs708242	0.86[EUR][1000 genomes]
rs7305811	0.86[EUR][1000 genomes]
rs833823	1.00[EUR][1000 genomes]
rs833829	1.00[EUR][1000 genomes]
rs833834	0.93[EUR][1000 genomes]
rs833835	1.00[EUR][1000 genomes]
rs941193	0.86[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	chr12:49320800-49335800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:49320800-49336000	Strong transcription	A549	lung
8	chr12:49320800-49338600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:49321000-49335600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:49321000-49335800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:49321000-49336400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:49321000-49336800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:49321000-49338200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:49321800-49337800	Strong transcription	Fetal Intestine Small	intestine
15	chr12:49322800-49337600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:49322800-49338600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:49323000-49335400	Strong transcription	Lung	lung
18	chr12:49323000-49335800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:49323000-49335800	Strong transcription	Adipose Nuclei	Adipose
20	chr12:49323000-49335800	Strong transcription	Fetal Brain Female	brain
21	chr12:49323000-49336400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr12:49323000-49337800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:49323000-49338600	Strong transcription	GM12878-XiMat	blood
24	chr12:49323200-49335800	Strong transcription	Brain Germinal Matrix	brain
25	chr12:49323200-49337800	Strong transcription	Fetal Intestine Large	intestine
26	chr12:49323400-49336400	Strong transcription	Hela-S3	cervix
27	chr12:49323400-49338600	Strong transcription	HUVEC	blood vessel
28	chr12:49324000-49337800	Strong transcription	Fetal Stomach	stomach
29	chr12:49324400-49335400	Strong transcription	Spleen	Spleen
30	chr12:49324400-49337600	Strong transcription	Placenta	Placenta
31	chr12:49324400-49338200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr12:49324600-49336200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:49325000-49336800	Strong transcription	NHEK	skin
34	chr12:49327000-49335800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:49328400-49338600	Strong transcription	Dnd41	blood
36	chr12:49328800-49336600	Strong transcription	Primary T cells from cord blood	blood
37	chr12:49328800-49336600	Strong transcription	Fetal Thymus	thymus
38	chr12:49329200-49335800	Strong transcription	NHLF	lung
39	chr12:49329400-49337200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:49329400-49337400	Strong transcription	Thymus	Thymus
41	chr12:49329400-49349400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:49329600-49336000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:49329800-49336400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:49330200-49339400	Weak transcription	Fetal Brain Male	brain
45	chr12:49330600-49335600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:49330600-49341400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:49330800-49335800	Strong transcription	Colonic Mucosa	Colon
48	chr12:49330800-49336000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:49330800-49337200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:49330800-49349000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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