Variant report

Variant	rs7969218
Chromosome Location	chr12:105053972-105053973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105053331..105055991-chr12:105057924..105061731,3	K562	blood:
2	chr12:105046397..105050237-chr12:105053960..105056196,3	MCF-7	breast:
3	chr12:105047156..105050168-chr12:105050213..105054131,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11112148	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112149	1.00[CEU][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17036007	0.82[MEX][hapmap]
rs61938626	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs737113	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105035800-105054000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:105038000-105062000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:105038400-105055400	Weak transcription	Gastric	stomach
4	chr12:105038400-105061200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:105038400-105062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:105038600-105057600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:105038600-105061000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:105038600-105061400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:105038600-105062400	Weak transcription	HMEC	breast
10	chr12:105038600-105062800	Weak transcription	Esophagus	oesophagus
11	chr12:105038600-105063200	Weak transcription	Primary T cells from cord blood	blood
12	chr12:105039200-105062200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:105041600-105054000	Strong transcription	Dnd41	blood
14	chr12:105043000-105054000	Weak transcription	Brain Angular Gyrus	brain
15	chr12:105044600-105061600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:105046000-105054000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:105046000-105058200	Weak transcription	Fetal Brain Female	brain
18	chr12:105046200-105061200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:105046400-105055800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:105046400-105061000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:105046800-105054000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:105046800-105054400	Weak transcription	Primary B cells from cord blood	blood
23	chr12:105046800-105060600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:105047600-105060600	Weak transcription	K562	blood
25	chr12:105048000-105062400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:105048600-105054000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:105048600-105058200	Weak transcription	Thymus	Thymus
28	chr12:105049200-105062200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:105050400-105054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:105051000-105061800	Weak transcription	HSMMtube	muscle
31	chr12:105051000-105065000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:105051200-105055000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr12:105051600-105056200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:105051600-105060600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:105051800-105054800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:105051800-105062000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:105051800-105062200	Weak transcription	Spleen	Spleen
38	chr12:105051800-105065000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:105052000-105056800	Weak transcription	Fetal Brain Male	brain
40	chr12:105052000-105060600	Weak transcription	Brain Anterior Caudate	brain
41	chr12:105052200-105054000	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:105052200-105055800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:105052400-105055400	Weak transcription	A549	lung
44	chr12:105052400-105061200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr12:105052400-105061400	Weak transcription	Lung	lung
46	chr12:105053000-105062200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:105053800-105054200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr12:105053800-105054400	Enhancers	Primary T cells fromperipheralblood	blood

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