Variant report

Variant	rs73335910
Chromosome Location	chr12:58099976-58099977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:58098435..58100959-chr12:58118325..58121297,2	K562	blood:
2	chr12:57995985..57998083-chr12:58098335..58100355,2	K562	blood:
3	chr12:58087405..58089121-chr12:58098744..58101715,3	MCF-7	breast:
4	chr12:58099859..58102384-chr12:58116011..58117778,2	MCF-7	breast:
5	chr12:58098671..58101243-chr12:58113313..58115696,2	K562	blood:
6	chr12:58098442..58100613-chr12:58118455..58121698,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255737	Chromatin interaction
ENSG00000257342	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000257499	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs34299538	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55849950	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56318011	1.00[AMR][1000 genomes]
rs58824032	1.00[AMR][1000 genomes]
rs59476756	1.00[AMR][1000 genomes]
rs73334082	1.00[AMR][1000 genomes]
rs73338222	1.00[AMR][1000 genomes]
rs73338246	1.00[AMR][1000 genomes]
rs73338249	1.00[AMR][1000 genomes]
rs73338250	1.00[AMR][1000 genomes]
rs73338252	1.00[AMR][1000 genomes]
rs73349954	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094487	1.00[AMR][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	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS 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 miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv1820402	chr12:58092554-58110211	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58089000-58109400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:58089000-58110000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:58089200-58103400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:58089200-58115400	Weak transcription	Fetal Heart	heart
5	chr12:58089800-58101200	Strong transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:58091000-58109800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:58091000-58110200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:58091200-58101200	Weak transcription	Colonic Mucosa	Colon
9	chr12:58091200-58109600	Weak transcription	Right Ventricle	heart
10	chr12:58091200-58116600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:58091400-58108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:58091400-58110200	Weak transcription	HUVEC	blood vessel
13	chr12:58091400-58111600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:58092200-58106600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:58092600-58103800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:58092600-58106400	Weak transcription	Aorta	Aorta
17	chr12:58092600-58106600	Weak transcription	Esophagus	oesophagus
18	chr12:58092600-58107600	Weak transcription	Pancreas	Pancrea
19	chr12:58092800-58109000	Weak transcription	HSMMtube	muscle
20	chr12:58092800-58109200	Weak transcription	HepG2	liver
21	chr12:58092800-58109400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:58093000-58106600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:58093400-58106400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:58093400-58109600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:58093400-58115400	Weak transcription	Fetal Brain Male	brain
26	chr12:58093600-58109000	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:58094400-58106400	Weak transcription	Spleen	Spleen
28	chr12:58094400-58119600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:58094600-58101000	Weak transcription	Gastric	stomach
30	chr12:58095400-58100000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:58095400-58101400	Strong transcription	Fetal Lung	lung
32	chr12:58095400-58103000	Strong transcription	Liver	Liver
33	chr12:58095600-58102400	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:58095800-58101600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:58096000-58100600	Strong transcription	Placenta	Placenta
36	chr12:58096000-58101600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:58096000-58102200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr12:58096200-58102800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr12:58096400-58100200	Strong transcription	Brain Anterior Caudate	brain
40	chr12:58096600-58101200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:58096600-58109200	Weak transcription	Brain Angular Gyrus	brain
42	chr12:58096800-58100600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:58096800-58110200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr12:58097000-58100200	Strong transcription	Brain Germinal Matrix	brain
45	chr12:58097000-58100400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:58097200-58116200	Weak transcription	Psoas Muscle	Psoas
47	chr12:58097400-58101400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:58097400-58109200	Weak transcription	Brain Substantia Nigra	brain
49	chr12:58097400-58109800	Weak transcription	NHEK	skin
50	chr12:58097600-58101400	Strong transcription	Stomach Smooth Muscle	stomach

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