Variant report

Variant	rs12256539
Chromosome Location	chr10:6631527-6631528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:6496886..6498996-chr10:6631205..6633815,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11259699	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4575169	1.00[AMR][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	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1047309	chr10:6495583-6714060	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12256539	SFMBT2	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6623000-6633200	Weak transcription	Pancreas	Pancrea
2	chr10:6623000-6636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:6623400-6633600	Weak transcription	Primary B cells from cord blood	blood
4	chr10:6623400-6634800	Weak transcription	Fetal Intestine Small	intestine
5	chr10:6623800-6634400	Weak transcription	NHEK	skin
6	chr10:6624200-6635000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:6624200-6635400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr10:6624200-6637000	Weak transcription	A549	lung
9	chr10:6624400-6633800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr10:6624800-6635800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr10:6626200-6635200	Weak transcription	HMEC	breast
12	chr10:6626200-6643400	Weak transcription	Fetal Muscle Leg	muscle
13	chr10:6626200-6645200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:6628000-6633600	Genic enhancers	Fetal Thymus	thymus
15	chr10:6628000-6644600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr10:6628800-6632600	Weak transcription	K562	blood
17	chr10:6628800-6633000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr10:6628800-6635800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:6628800-6636400	Weak transcription	Brain Anterior Caudate	brain
20	chr10:6628800-6644600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr10:6629200-6635200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:6629400-6633000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr10:6629600-6634600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr10:6629800-6633600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr10:6630000-6633400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr10:6630200-6631800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr10:6630200-6633000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr10:6630200-6633800	Genic enhancers	Primary T cells fromperipheralblood	blood
29	chr10:6630400-6632200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
30	chr10:6630800-6631600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr10:6630800-6631600	Strong transcription	Dnd41	blood
32	chr10:6630800-6632400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:6631000-6631600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
34	chr10:6631000-6631600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr10:6631000-6632000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr10:6631000-6633200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr10:6631200-6631600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr10:6631200-6632000	Strong transcription	Primary hematopoietic stem cells	blood
39	chr10:6631200-6632000	Strong transcription	Thymus	Thymus
40	chr10:6631200-6632400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr10:6631200-6633200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:6631200-6635200	Weak transcription	Brain Hippocampus Middle	brain
43	chr10:6631200-6644800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr10:6631400-6631600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr10:6631400-6631600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr10:6631400-6632000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr10:6631400-6633000	Weak transcription	Brain Substantia Nigra	brain
48	chr10:6631400-6633400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr10:6631400-6635200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr10:6631400-6635400	Weak transcription	Brain Cingulate Gyrus	brain

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