Variant report

Variant	rs17121314
Chromosome Location	chr12:44772302-44772303
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44771877..44773660-chr12:44776294..44779206,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10506248	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17094494	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094615	0.81[EUR][1000 genomes]
rs17094697	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1948461	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55923007	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55956897	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57673436	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61035347	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73094339	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73094354	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73096306	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73096326	1.00[ASN][1000 genomes]
rs73096328	1.00[ASN][1000 genomes]
rs73096336	1.00[ASN][1000 genomes]
rs7310784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74085178	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958792	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974460	0.90[EUR][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv826356	chr12:44725069-44783443	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
2	chr12:44754000-44775600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:44762000-44777400	Weak transcription	Fetal Intestine Small	intestine
4	chr12:44762000-44791200	Weak transcription	Fetal Intestine Large	intestine
5	chr12:44767400-44773000	Weak transcription	HMEC	breast
6	chr12:44768200-44773400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:44769000-44772400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:44769800-44773800	Weak transcription	Psoas Muscle	Psoas
9	chr12:44770000-44784400	Weak transcription	Pancreas	Pancrea
10	chr12:44770000-44785200	Weak transcription	Adipose Nuclei	Adipose
11	chr12:44770200-44774200	Weak transcription	HSMMtube	muscle
12	chr12:44770600-44772800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:44770800-44773400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:44770800-44775400	Enhancers	Fetal Brain Female	brain
15	chr12:44771200-44775800	Weak transcription	Left Ventricle	heart
16	chr12:44771200-44781800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:44771400-44772400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:44772000-44773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:44772000-44773600	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:44772000-44773600	Weak transcription	Fetal Stomach	stomach
21	chr12:44772000-44775000	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:44772000-44775000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:44772000-44782200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:44772200-44772600	Weak transcription	Fetal Brain Male	brain
25	chr12:44772200-44773200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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