Variant report

Variant	rs7975248
Chromosome Location	chr12:104955288-104955289
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104950099..104952735-chr12:104953962..104957251,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17812685	0.91[ASN][1000 genomes]
rs61940022	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61940023	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61940024	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61940025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61940026	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61940027	0.81[EUR][1000 genomes]
rs61940028	0.81[EUR][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	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
2	nsv1035364	chr12:104948307-105003705	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104930200-104957600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:104940600-104958000	Weak transcription	K562	blood
3	chr12:104941400-104959400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:104942000-104957600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:104944400-104957600	Weak transcription	A549	lung
6	chr12:104947400-104958000	Weak transcription	Primary T cells from cord blood	blood
7	chr12:104947800-104961200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:104947800-104964400	Weak transcription	Aorta	Aorta
9	chr12:104948000-104957600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:104949000-104959400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:104949000-104960400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:104949000-104961400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:104949400-104957200	Strong transcription	Dnd41	blood
14	chr12:104949600-104957800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:104949600-104968800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:104949800-104957800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:104949800-104957800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:104949800-104963400	Weak transcription	Lung	lung
19	chr12:104950000-104957600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:104950000-104958000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:104950000-104978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:104950200-104958000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:104950200-104959200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:104951600-104957600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:104951600-104959400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:104951600-104959600	Weak transcription	Brain Anterior Caudate	brain
27	chr12:104951600-104962200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:104952000-104957000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:104952000-104958000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:104952200-104957000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:104952200-104957600	Weak transcription	Thymus	Thymus
32	chr12:104952800-104956200	Weak transcription	Fetal Stomach	stomach
33	chr12:104953000-104957200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:104953200-104957400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:104953200-104957400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr12:104953800-104955400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:104953800-104955800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:104954400-104957000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:104954800-104957200	Weak transcription	Primary B cells from cord blood	blood
40	chr12:104955000-104957600	Weak transcription	Fetal Thymus	thymus
41	chr12:104955200-104955800	Weak transcription	GM12878-XiMat	blood
42	chr12:104955200-104957600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:104955200-104961800	Weak transcription	Spleen	Spleen

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