Variant report

Variant	rs12212322
Chromosome Location	chr6:143256237-143256238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143253291..143259371-chr6:143264304..143268146,10	MCF-7	breast:
2	chr6:143255723..143258241-chr6:143260281..143262447,2	MCF-7	breast:
3	chr6:143253110..143256505-chr6:143258284..143262684,4	K562	blood:
4	chr6:143254535..143256627-chr6:143292877..143294964,2	K562	blood:

Variant related genes	Relation type
ENSG00000010818	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs62428833	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922615	1.00[ASN][1000 genomes]
rs6940880	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7758819	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7764208	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9484687	1.00[ASN][1000 genomes]
rs9484695	1.00[ASN][1000 genomes]
rs9496482	1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9496483	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9496496	1.00[ASN][1000 genomes]
rs9496501	1.00[ASN][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	nsv538459	chr6:143165802-143360098	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv819036	chr6:143250094-143257343	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143248600-143260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:143248600-143265000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:143248800-143260600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:143249000-143263800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:143249200-143261400	Weak transcription	NH-A	brain
6	chr6:143249400-143261600	Weak transcription	HSMMtube	muscle
7	chr6:143249400-143264600	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:143249600-143263800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:143250200-143261600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:143250400-143257200	Weak transcription	Fetal Thymus	thymus
11	chr6:143250400-143261600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr6:143250600-143256600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr6:143251800-143257200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:143251800-143259400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:143251800-143259400	Weak transcription	Brain Angular Gyrus	brain
16	chr6:143251800-143259800	Weak transcription	HSMM	muscle
17	chr6:143251800-143259800	Weak transcription	NHEK	skin
18	chr6:143251800-143261400	Weak transcription	HMEC	breast
19	chr6:143252000-143261600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:143252000-143261800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:143252400-143256800	Enhancers	Primary T cells from cord blood	blood
22	chr6:143253600-143258200	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:143253800-143256800	Enhancers	Primary B cells from cord blood	blood
24	chr6:143254200-143256400	Enhancers	Liver	Liver
25	chr6:143254200-143258600	Weak transcription	Fetal Brain Male	brain
26	chr6:143254400-143256800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr6:143254400-143261600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:143254600-143256400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:143254600-143256800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:143254800-143256600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr6:143254800-143256800	Enhancers	Brain Substantia Nigra	brain
32	chr6:143255000-143257600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr6:143255000-143257600	Flanking Active TSS	GM12878-XiMat	blood
34	chr6:143255200-143256400	Enhancers	Adipose Nuclei	Adipose
35	chr6:143255200-143256400	Enhancers	Brain Hippocampus Middle	brain
36	chr6:143255200-143257200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:143255400-143256400	Enhancers	Thymus	Thymus
38	chr6:143255400-143256600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr6:143255400-143256600	Enhancers	Small Intestine	intestine
40	chr6:143255400-143259600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr6:143255600-143256400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:143255600-143256800	Enhancers	Dnd41	blood
43	chr6:143255600-143257000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:143255600-143259400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:143255600-143261800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:143255600-143263400	Weak transcription	Fetal Heart	heart
47	chr6:143255600-143263400	Weak transcription	Fetal Intestine Small	intestine
48	chr6:143255600-143263600	Weak transcription	Colon Smooth Muscle	Colon
49	chr6:143255800-143256400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:143255800-143256600	Enhancers	Esophagus	oesophagus

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