Variant report

Variant	rs73104197
Chromosome Location	chr12:48111056-48111057
allele	G/T
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	CTCF	chr12:48110980-48111130	HA-sp	spinal cord:	n/a	n/a
2	CTCF	chr12:48110920-48111070	GM12873	blood:	n/a	n/a
3	CTCF	chr12:48110814-48111786	A549	lung:	n/a	chr12:48111466-48111484 chr12:48111471-48111492 chr12:48111469-48111487 chr12:48111470-48111486 chr12:48111461-48111482
4	CTCF	chr12:48111020-48111170	GM06990	blood:	n/a	n/a
5	CTCF	chr12:48110960-48111110	K562	blood:	n/a	n/a
6	CTCF	chr12:48110835-48112130	SK-N-SH	brain:	n/a	chr12:48111466-48111484 chr12:48111471-48111492 chr12:48111469-48111487 chr12:48111470-48111486 chr12:48111461-48111482
7	SMC3	chr12:48110976-48112065	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr12:48110940-48111090	BE2_C	brain:	n/a	n/a
9	CTCF	chr12:48110940-48111090	WI-38	lung:	n/a	n/a
10	CTCF	chr12:48110940-48111090	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr12:48110980-48111130	AG04450	lung:	n/a	n/a
12	RAD21	chr12:48110932-48112121	SK-N-SH	brain:	n/a	chr12:48111678-48111697 chr12:48111464-48111483 chr12:48111470-48111489
13	CTCF	chr12:48111000-48111150	HVMF	connective:	n/a	n/a
14	CTCF	chr12:48110980-48111130	HRE	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48109212..48111939-chr12:48164649..48166863,2	MCF-7	breast:
2	chr12:48111014..48111901-chr12:48135670..48136730,5	MCF-7	breast:
3	chr12:48108161..48111101-chr12:48229795..48232541,2	K562	blood:
4	chr12:48110039..48113166-chr12:48116140..48121059,8	MCF-7	breast:
5	chr12:48110716..48112892-chr12:48170782..48173375,2	K562	blood:
6	chr12:48108739..48111513-chr12:48143992..48146721,2	MCF-7	breast:
7	chr12:48109596..48111288-chr12:48213761..48215553,2	MCF-7	breast:
8	chr12:48109324..48111684-chr12:48163704..48166114,2	K562	blood:
9	chr12:48108354..48111166-chr12:48231258..48232998,20	K562	blood:
10	chr12:48098499..48101428-chr12:48108711..48111511,2	MCF-7	breast:
11	chr12:48108589..48112284-chr12:48169450..48173129,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257433	TF binding region
ENSG00000079337	Chromatin interaction
ENSG00000211584	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000005175	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12423045	1.00[AFR][1000 genomes]
rs12425816	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35784744	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57848393	1.00[ASN][1000 genomes]
rs60186089	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67201012	1.00[ASN][1000 genomes]
rs67408202	1.00[ASN][1000 genomes]
rs73104138	1.00[AFR][1000 genomes]
rs73104143	1.00[AFR][1000 genomes]
rs73104148	1.00[AFR][1000 genomes]
rs73104152	1.00[AFR][1000 genomes]
rs73104155	1.00[AFR][1000 genomes]
rs73104161	1.00[AFR][1000 genomes]
rs73104163	1.00[AFR][1000 genomes]
rs73104177	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73104184	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73104188	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73104190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105803	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105812	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105814	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105819	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48100000-48111200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:48101400-48111200	Weak transcription	Small Intestine	intestine
3	chr12:48101800-48111200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:48102800-48125000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:48103200-48111200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:48104600-48113000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:48105600-48111200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:48106200-48112600	Enhancers	Ovary	ovary
9	chr12:48106600-48111200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:48108200-48112400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:48108600-48112400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr12:48108800-48111200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr12:48108800-48111200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr12:48108800-48112200	Enhancers	Brain Angular Gyrus	brain
15	chr12:48108800-48112200	Enhancers	Fetal Muscle Trunk	muscle
16	chr12:48108800-48112600	Enhancers	Brain Cingulate Gyrus	brain
17	chr12:48108800-48112600	Enhancers	Fetal Muscle Leg	muscle
18	chr12:48108800-48112600	Enhancers	Fetal Stomach	stomach
19	chr12:48108800-48112600	Enhancers	Left Ventricle	heart
20	chr12:48108800-48112600	Enhancers	Right Atrium	heart
21	chr12:48108800-48112600	Enhancers	Right Ventricle	heart
22	chr12:48108800-48112800	Enhancers	Brain Hippocampus Middle	brain
23	chr12:48108800-48112800	Enhancers	Brain Substantia Nigra	brain
24	chr12:48108800-48113000	Enhancers	Rectal Smooth Muscle	rectum
25	chr12:48109000-48112200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr12:48109000-48112200	Enhancers	Fetal Thymus	thymus
27	chr12:48109000-48112400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:48109000-48112400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:48109000-48112600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:48109000-48112600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:48109000-48112600	Enhancers	Lung	lung
32	chr12:48109400-48112200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:48109400-48112400	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:48109600-48111200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:48109600-48111200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:48109600-48111200	Weak transcription	HSMMtube	muscle
37	chr12:48109600-48111400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr12:48109600-48113400	Enhancers	Adipose Nuclei	Adipose
39	chr12:48109800-48111200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:48109800-48111200	Enhancers	Stomach Smooth Muscle	stomach
41	chr12:48109800-48111200	Weak transcription	Thymus	Thymus
42	chr12:48109800-48111200	Weak transcription	HSMM	muscle
43	chr12:48109800-48111200	Weak transcription	HUVEC	blood vessel
44	chr12:48109800-48111200	Weak transcription	K562	blood
45	chr12:48109800-48111200	Weak transcription	NHLF	lung
46	chr12:48109800-48112200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:48109800-48112600	Enhancers	Brain Anterior Caudate	brain
48	chr12:48109800-48112800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr12:48110000-48111200	Weak transcription	Liver	Liver
50	chr12:48110000-48111200	Weak transcription	Hela-S3	cervix

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