Variant report

Variant	rs12330212
Chromosome Location	chr3:17225096-17225097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:17223218..17225620-chr3:17228660..17232430,3	K562	blood:
2	chr3:17222423..17225237-chr3:17227826..17231220,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12233538	1.00[YRI][hapmap]
rs12330131	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12330628	1.00[YRI][hapmap]
rs13315007	1.00[YRI][hapmap]
rs28483035	1.00[AFR][1000 genomes]
rs28702567	1.00[AFR][1000 genomes]
rs9810371	1.00[YRI][hapmap]
rs9811514	1.00[AFR][1000 genomes]
rs9823204	1.00[AFR][1000 genomes]
rs9824210	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9825456	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9828600	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9828968	1.00[AFR][1000 genomes]
rs9829692	1.00[AFR][1000 genomes]
rs9840483	1.00[YRI][hapmap]
rs9845137	1.00[YRI][hapmap]
rs9846303	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9856372	1.00[YRI][hapmap]
rs9881675	1.00[YRI][hapmap]
rs9883914	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv589841	chr3:17214070-17290465	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv876588	chr3:17214070-17314872	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17198400-17225200	Weak transcription	HMEC	breast
2	chr3:17200800-17225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:17201200-17236200	Weak transcription	Fetal Brain Male	brain
4	chr3:17203800-17244200	Weak transcription	Colonic Mucosa	Colon
5	chr3:17208200-17244000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:17208400-17228600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:17208400-17243800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:17208400-17244000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:17208800-17234400	Weak transcription	Brain Angular Gyrus	brain
10	chr3:17209000-17234000	Weak transcription	Brain Substantia Nigra	brain
11	chr3:17209200-17225600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr3:17209600-17234000	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:17209600-17236800	Weak transcription	Gastric	stomach
14	chr3:17210000-17244000	Weak transcription	Esophagus	oesophagus
15	chr3:17215600-17236800	Weak transcription	Pancreas	Pancrea
16	chr3:17217600-17225200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:17217600-17225200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:17217600-17225600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:17217600-17242600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:17217800-17225200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:17217800-17232000	Weak transcription	Spleen	Spleen
22	chr3:17217800-17234200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr3:17218000-17243800	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:17218600-17236800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:17219200-17230400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:17220600-17225600	Enhancers	Fetal Heart	heart
27	chr3:17220800-17227000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr3:17221000-17236600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:17221400-17225200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:17221400-17225400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:17221400-17229800	Weak transcription	HSMMtube	muscle
32	chr3:17221600-17225200	Weak transcription	NHDF-Ad	bronchial
33	chr3:17221600-17225400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:17221600-17228200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:17221600-17229400	Weak transcription	Psoas Muscle	Psoas
36	chr3:17221600-17230200	Weak transcription	Brain Germinal Matrix	brain
37	chr3:17221600-17232600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:17221600-17243200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr3:17221600-17244000	Weak transcription	Thymus	Thymus
40	chr3:17221600-17295800	Weak transcription	HSMM	muscle
41	chr3:17221800-17225200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:17221800-17232400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr3:17222200-17226400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr3:17222400-17226600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:17222600-17226600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:17222600-17226800	Strong transcription	Adipose Nuclei	Adipose
47	chr3:17223800-17229400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:17223800-17236600	Weak transcription	Fetal Brain Female	brain
49	chr3:17224000-17225200	Weak transcription	NH-A	brain
50	chr3:17224000-17225200	Weak transcription	NHLF	lung

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