Variant report

Variant	rs17100093
Chromosome Location	chr12:64498449-64498450
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	chr12:64497143..64499871-chr12:64614144..64617414,4	MCF-7	breast:
2	chr12:64496361..64499639-chr12:64501132..64504183,3	K562	blood:

Variant related genes	Relation type
ENSG00000243024	Chromatin interaction
ENSG00000174206	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11832841	1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835401	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838032	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17100102	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[ASN][1000 genomes]
rs17100105	0.82[ASN][1000 genomes]
rs2270731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs35994401	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803105	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57729579	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59228761	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59329353	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59776688	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs73321318	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321360	0.82[ASN][1000 genomes]
rs73321378	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs74099279	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74099280	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74099281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs789734	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs789735	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7968523	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7968527	0.93[ASW][hapmap]

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	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64457000-64510600	Weak transcription	HepG2	liver
2	chr12:64474800-64521400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:64477400-64520800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:64482800-64503400	Weak transcription	Fetal Intestine Large	intestine
5	chr12:64483000-64521400	Weak transcription	Liver	Liver
6	chr12:64483200-64502400	Weak transcription	Aorta	Aorta
7	chr12:64483200-64502400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:64483200-64503400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:64483200-64520800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:64483200-64521400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:64483400-64503600	Weak transcription	Right Ventricle	heart
12	chr12:64483400-64505400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:64483600-64503600	Weak transcription	Pancreas	Pancrea
14	chr12:64483600-64519800	Weak transcription	Gastric	stomach
15	chr12:64483600-64521400	Weak transcription	Lung	lung
16	chr12:64485400-64502800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:64486600-64504200	Weak transcription	Fetal Heart	heart
18	chr12:64487400-64526600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:64489000-64506400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:64490400-64498600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:64491800-64523600	Weak transcription	HUVEC	blood vessel
22	chr12:64492400-64503800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:64492400-64515400	Weak transcription	Brain Anterior Caudate	brain
24	chr12:64492800-64503800	Weak transcription	Fetal Intestine Small	intestine
25	chr12:64493000-64503400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:64493000-64515800	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:64493200-64503400	Weak transcription	Brain Germinal Matrix	brain
28	chr12:64493200-64509400	Weak transcription	Fetal Stomach	stomach
29	chr12:64493200-64523600	Weak transcription	Brain Angular Gyrus	brain
30	chr12:64493400-64503800	Weak transcription	Left Ventricle	heart
31	chr12:64493400-64509200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:64493600-64503400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:64493600-64505200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:64493600-64518800	Weak transcription	Fetal Brain Male	brain
35	chr12:64493800-64503800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:64494000-64503200	Weak transcription	Fetal Lung	lung
37	chr12:64494000-64514200	Weak transcription	Hela-S3	cervix
38	chr12:64494000-64521400	Weak transcription	Psoas Muscle	Psoas
39	chr12:64494200-64498600	Enhancers	Osteobl	bone
40	chr12:64494200-64521400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:64494400-64502600	Weak transcription	Fetal Brain Female	brain
42	chr12:64494800-64502800	Weak transcription	Adipose Nuclei	Adipose
43	chr12:64495000-64498600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:64495000-64499000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:64495200-64500000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:64495400-64500000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:64496000-64498600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:64496200-64499000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:64496400-64520800	Weak transcription	Spleen	Spleen
50	chr12:64496600-64502600	Weak transcription	Rectal Mucosa Donor 31	rectum

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