Variant report

Variant	rs17118651
Chromosome Location	chr12:56841130-56841131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56838620..56841203-chr12:56841279..56843088,2	MCF-7	breast:
2	chr12:56839562..56844740-chr12:56860089..56866019,9	MCF-7	breast:
3	chr12:56836758..56838367-chr12:56840273..56842942,2	K562	blood:
4	chr12:56839650..56841550-chr12:56851154..56853411,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135517	Chromatin interaction
ENSG00000176422	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11575215	1.00[AMR][1000 genomes]
rs11829345	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17118655	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57742941	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094726	1.00[AMR][1000 genomes]
rs74094742	0.83[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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56811800-56842400	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:56813000-56842600	Weak transcription	Fetal Heart	heart
3	chr12:56813200-56841200	Weak transcription	Fetal Kidney	kidney
4	chr12:56813800-56842400	Weak transcription	Right Atrium	heart
5	chr12:56816200-56842400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:56825400-56842000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:56826200-56842400	Weak transcription	NH-A	brain
8	chr12:56826400-56841800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:56826400-56842200	Weak transcription	HSMM	muscle
10	chr12:56826400-56842400	Weak transcription	NHDF-Ad	bronchial
11	chr12:56827200-56842600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:56827800-56841200	Weak transcription	HepG2	liver
13	chr12:56827800-56841800	Weak transcription	Primary B cells from cord blood	blood
14	chr12:56827800-56841800	Weak transcription	Lung	lung
15	chr12:56827800-56842200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:56827800-56842400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:56827800-56842400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:56827800-56842400	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:56827800-56842400	Weak transcription	Fetal Stomach	stomach
20	chr12:56827800-56842400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:56827800-56842600	Weak transcription	Spleen	Spleen
22	chr12:56828000-56841200	Weak transcription	A549	lung
23	chr12:56828000-56841200	Weak transcription	GM12878-XiMat	blood
24	chr12:56828000-56841400	Weak transcription	Liver	Liver
25	chr12:56828000-56842200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:56828000-56842400	Weak transcription	Fetal Thymus	thymus
27	chr12:56828000-56842400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:56828000-56842400	Weak transcription	Thymus	Thymus
29	chr12:56828200-56841200	Weak transcription	Hela-S3	cervix
30	chr12:56836200-56841600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:56836600-56842400	Weak transcription	HMEC	breast
32	chr12:56837000-56842600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:56837600-56842400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:56838000-56841800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:56838200-56842400	Weak transcription	NHEK	skin
36	chr12:56838400-56842400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:56838600-56841400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:56838600-56842000	Weak transcription	Fetal Intestine Large	intestine
39	chr12:56838600-56842400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:56838600-56842600	Weak transcription	Left Ventricle	heart
41	chr12:56838800-56841200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:56838800-56841200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:56838800-56841200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:56838800-56841200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:56838800-56841200	Weak transcription	HUVEC	blood vessel
46	chr12:56838800-56841600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:56838800-56841600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:56838800-56842200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr12:56838800-56842200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:56838800-56842200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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