Variant report

Variant	rs17193219
Chromosome Location	chr12:104493181-104493182
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	chr12:104486963..104489819-chr12:104491928..104495052,4	K562	blood:
2	chr12:104492807..104495582-chr12:104496418..104499208,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11837739	0.87[AMR][1000 genomes]
rs17192938	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17193036	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17193064	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805891	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17806516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17806577	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4257050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59097029	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59714382	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61234792	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61440530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61610230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313573	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73390481	0.83[ASN][1000 genomes]
rs7979713	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[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	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104460000-104496800	Weak transcription	HepG2	liver
2	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
3	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
4	chr12:104471000-104499600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr12:104471400-104500000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:104472000-104497400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:104472400-104497400	Strong transcription	Placenta	Placenta
8	chr12:104472400-104501200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:104472600-104497200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:104476200-104497400	Strong transcription	Adipose Nuclei	Adipose
11	chr12:104477200-104508400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:104478600-104499400	Weak transcription	Fetal Heart	heart
13	chr12:104480000-104508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:104480600-104497600	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:104481000-104495000	Weak transcription	Esophagus	oesophagus
16	chr12:104481000-104499400	Weak transcription	Stomach Mucosa	stomach
17	chr12:104481000-104500800	Weak transcription	K562	blood
18	chr12:104482800-104508200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:104485000-104500800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:104485200-104495600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr12:104486200-104503000	Weak transcription	Small Intestine	intestine
22	chr12:104486800-104495800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr12:104487000-104497200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:104487000-104497800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:104487200-104493400	Strong transcription	Dnd41	blood
26	chr12:104487200-104494000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:104487200-104495600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:104487200-104496000	Strong transcription	HSMMtube	muscle
29	chr12:104487200-104497000	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:104487200-104497200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:104487200-104497200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:104487200-104497400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr12:104487200-104497600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:104487200-104499800	Strong transcription	HSMM	muscle
35	chr12:104487400-104493600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr12:104487400-104498400	Strong transcription	NHDF-Ad	bronchial
37	chr12:104487600-104493400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr12:104487600-104493600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:104487600-104494800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:104487600-104497000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:104487600-104497000	Strong transcription	Left Ventricle	heart
42	chr12:104488400-104494000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:104488800-104494400	Strong transcription	Brain Germinal Matrix	brain
44	chr12:104489000-104494400	Strong transcription	NH-A	brain
45	chr12:104489200-104502600	Weak transcription	Psoas Muscle	Psoas
46	chr12:104489400-104495000	Strong transcription	Osteobl	bone
47	chr12:104489800-104494800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:104490000-104497200	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:104490000-104499000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr12:104490200-104493600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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