Variant report

Variant	rs55704499
Chromosome Location	chr12:51633454-51633455
allele	A/C
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51633114..51633779-chr19:51869733..51870568,2	Hela-S3	cervix:
2	chr12:51597757..51600269-chr12:51632271..51633974,2	MCF-7	breast:
3	chr12:51519067..51522017-chr12:51633023..51634538,2	K562	blood:
4	chr12:51475685..51480588-chr12:51631516..51635411,7	K562	blood:
5	chr12:51420362..51422970-chr12:51633347..51635239,2	MCF-7	breast:
6	chr12:51631526..51635212-chr12:51662486..51664929,4	MCF-7	breast:
7	chr12:51564447..51569582-chr12:51630930..51635335,8	K562	blood:
8	chr12:51441619..51444815-chr12:51631402..51636504,5	K562	blood:
9	chr12:51440782..51445752-chr12:51631445..51635429,5	MCF-7	breast:
10	chr12:51475046..51479825-chr12:51631265..51637401,17	MCF-7	breast:
11	chr12:51633168..51635077-chr12:51718759..51720463,2	MCF-7	breast:
12	chr12:51420182..51422992-chr12:51631104..51633893,3	MCF-7	breast:
13	chr12:51440639..51443821-chr12:51630707..51634068,3	K562	blood:
14	chr12:51611183..51613531-chr12:51631479..51634171,5	MCF-7	breast:
15	chr12:51470174..51472582-chr12:51632362..51634494,2	K562	blood:
16	chr12:51609133..51616659-chr12:51628963..51635200,14	K562	blood:
17	chr12:51417478..51420284-chr12:51632474..51634014,2	MCF-7	breast:
18	chr12:51474566..51481175-chr12:51630411..51639813,21	MCF-7	breast:
19	chr12:51442131..51443654-chr12:51632359..51634023,2	MCF-7	breast:
20	chr12:51475977..51480172-chr12:51631546..51634625,6	K562	blood:
21	chr12:51564257..51569582-chr12:51630930..51636873,13	K562	blood:
22	chr12:51611105..51614311-chr12:51630494..51636750,15	K562	blood:

No data

Variant related genes	Relation type
ENSG00000050426	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000257246	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000110911	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11169773	1.00[EUR][1000 genomes]
rs55749225	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56168937	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56298522	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56664350	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57515945	1.00[EUR][1000 genomes]
rs58190556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58959803	1.00[EUR][1000 genomes]
rs58974544	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59459113	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59839052	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59898968	1.00[EUR][1000 genomes]
rs60852569	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73305801	1.00[EUR][1000 genomes]
rs73307705	1.00[EUR][1000 genomes]
rs73307731	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307734	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307737	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307741	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307746	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73307750	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74091911	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74091914	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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	chr12:51631800-51633600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr12:51631800-51633600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr12:51631800-51633600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr12:51631800-51633600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:51631800-51633600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:51631800-51633600	Active TSS	Colonic Mucosa	Colon
7	chr12:51631800-51633600	Active TSS	Fetal Intestine Large	intestine
8	chr12:51631800-51633600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:51631800-51633600	Active TSS	Fetal Stomach	stomach
10	chr12:51631800-51633600	Active TSS	A549	lung
11	chr12:51631800-51633600	Active TSS	NHDF-Ad	bronchial
12	chr12:51631800-51633800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:51631800-51633800	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr12:51631800-51633800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:51631800-51633800	Active TSS	Psoas Muscle	Psoas
16	chr12:51631800-51633800	Active TSS	Right Ventricle	heart
17	chr12:51631800-51634000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr12:51631800-51634000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:51632000-51633600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:51632000-51633600	Active TSS	Esophagus	oesophagus
21	chr12:51632000-51633600	Active TSS	Fetal Lung	lung
22	chr12:51632000-51633600	Active TSS	Fetal Muscle Trunk	muscle
23	chr12:51632000-51633600	Active TSS	Left Ventricle	heart
24	chr12:51632000-51633600	Active TSS	HSMM	muscle
25	chr12:51632000-51633800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:51632000-51633800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:51632000-51633800	Active TSS	Aorta	Aorta
28	chr12:51632000-51633800	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr12:51632000-51633800	Active TSS	NHLF	lung
30	chr12:51632000-51634000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:51632000-51634000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:51632000-51634000	Active TSS	Gastric	stomach
33	chr12:51632000-51634200	Active TSS	Stomach Mucosa	stomach
34	chr12:51632200-51633600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:51632200-51633600	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr12:51632200-51633600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr12:51632200-51633600	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr12:51632200-51633600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:51632200-51633600	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr12:51632200-51633600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr12:51632200-51633600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:51632200-51633600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:51632200-51633600	Active TSS	Brain Anterior Caudate	brain
44	chr12:51632200-51633600	Active TSS	Brain Hippocampus Middle	brain
45	chr12:51632200-51633600	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr12:51632200-51633600	Active TSS	Brain Substantia Nigra	brain
47	chr12:51632200-51633600	Active TSS	Fetal Brain Male	brain
48	chr12:51632200-51633600	Active TSS	Fetal Heart	heart
49	chr12:51632200-51633600	Active TSS	Fetal Intestine Small	intestine
50	chr12:51632200-51633600	Active TSS	Fetal Kidney	kidney

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