Variant report

Variant	rs17812685
Chromosome Location	chr12:104944811-104944812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104944181..104946936-chr12:104950412..104953121,2	K562	blood:
2	chr12:104935546..104938743-chr12:104941604..104945727,4	MCF-7	breast:
3	chr12:104938513..104940949-chr12:104944779..104947009,2	MCF-7	breast:
4	chr12:104944520..104947051-chr12:104950465..104952770,2	MCF-7	breast:
5	chr12:104939073..104940663-chr12:104943081..104945935,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11610090	1.00[ASW][hapmap];0.89[CEU][hapmap];0.86[GIH][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs11613277	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17035707	0.88[CEU][hapmap];1.00[MEX][hapmap]
rs1966076	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61940003	0.87[AMR][1000 genomes]
rs61940005	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61940022	0.91[ASN][1000 genomes]
rs61940023	0.91[ASN][1000 genomes]
rs61940024	0.91[ASN][1000 genomes]
rs61940025	0.89[ASN][1000 genomes]
rs61940026	0.89[ASN][1000 genomes]
rs7970787	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs7975248	0.91[ASN][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	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104930200-104957600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:104935200-104947400	Weak transcription	Aorta	Aorta
3	chr12:104935400-104946400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:104935400-104947000	Weak transcription	Primary T cells from cord blood	blood
5	chr12:104939000-104946600	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:104939200-104945400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:104939200-104951200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:104939400-104945000	Weak transcription	HSMMtube	muscle
9	chr12:104939800-104945200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:104939800-104946600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:104939800-104947400	Weak transcription	Spleen	Spleen
12	chr12:104939800-104948000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:104939800-104948000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:104940400-104945600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:104940600-104958000	Weak transcription	K562	blood
16	chr12:104941000-104946400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:104941200-104949200	Weak transcription	Fetal Brain Female	brain
18	chr12:104941200-104951400	Weak transcription	Thymus	Thymus
19	chr12:104941400-104945000	Weak transcription	Brain Anterior Caudate	brain
20	chr12:104941400-104946400	Weak transcription	NHEK	skin
21	chr12:104941400-104948000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:104941400-104948800	Weak transcription	Fetal Thymus	thymus
23	chr12:104941400-104949400	Weak transcription	Lung	lung
24	chr12:104941400-104959400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:104942000-104947800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:104942000-104957600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:104942600-104945800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:104942800-104948800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:104943400-104946600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:104943600-104945200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:104943600-104945800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr12:104943800-104945600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:104944000-104945000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:104944000-104947000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr12:104944000-104947200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:104944000-104948000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:104944000-104948000	Strong transcription	Dnd41	blood
38	chr12:104944200-104948600	Weak transcription	HMEC	breast
39	chr12:104944200-104948800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:104944400-104945000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:104944400-104946400	Weak transcription	Primary B cells from cord blood	blood
42	chr12:104944400-104957600	Weak transcription	A549	lung
43	chr12:104944600-104945000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr12:104944600-104945200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr12:104944600-104945400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:104944600-104946600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:104944600-104946800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:104944600-104948800	Weak transcription	Small Intestine	intestine
49	chr12:104944600-104949200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr12:104944800-104945800	Enhancers	Brain Germinal Matrix	brain

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