Variant report

Variant	rs12249559
Chromosome Location	chr10:6221839-6221840
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6219224..6221919-chr10:6233756..6235338,2	K562	blood:
2	chr10:6213996..6218900-chr10:6219033..6223429,8	K562	blood:
3	chr10:6205792..6207491-chr10:6220254..6222481,2	MCF-7	breast:
4	chr10:6208646..6210405-chr10:6219404..6221992,2	MCF-7	breast:
5	chr10:6213961..6227951-chr10:6240689..6247831,28	MCF-7	breast:
6	chr10:6181525..6183322-chr10:6221078..6223708,2	MCF-7	breast:
7	chr10:6209809..6221866-chr10:6241112..6247882,17	MCF-7	breast:
8	chr10:6220194..6222344-chr10:6222770..6224808,2	K562	blood:
9	chr10:6210751..6212790-chr10:6219914..6222242,2	K562	blood:
10	chr10:6215356..6217210-chr10:6219682..6222301,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170525	Chromatin interaction
ENSG00000213994	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12722676	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv894817	chr10:6173416-6251252	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
7	nsv894818	chr10:6210740-6222819	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv894819	chr10:6210740-6226889	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv894820	chr10:6210740-6226889	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv894821	chr10:6210740-6228226	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv894822	chr10:6210740-6228226	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv466725	chr10:6213807-6228226	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv549910	chr10:6213807-6228226	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv894823	chr10:6213960-6228226	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv894824	chr10:6213980-6228226	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv894825	chr10:6214060-6226889	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv894826	chr10:6214060-6228226	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv894827	chr10:6215091-6226889	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv466726	chr10:6215091-6227382	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv549911	chr10:6215091-6227382	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv894828	chr10:6215091-6228226	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv894829	chr10:6215257-6227382	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv894830	chr10:6215257-6228226	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv894831	chr10:6215257-6236332	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv1041039	chr10:6217724-6354858	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6188400-6225200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:6207000-6244400	Weak transcription	Hela-S3	cervix
3	chr10:6209400-6224400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:6212400-6224600	Weak transcription	Dnd41	blood
5	chr10:6214200-6239800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr10:6214400-6222600	Enhancers	Brain Hippocampus Middle	brain
7	chr10:6214400-6224000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr10:6214400-6224400	Weak transcription	HSMMtube	muscle
9	chr10:6215000-6237200	Weak transcription	Primary B cells from cord blood	blood
10	chr10:6215200-6224600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr10:6215400-6223200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr10:6216200-6237400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr10:6216600-6230000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr10:6217400-6224000	Weak transcription	Liver	Liver
15	chr10:6218200-6224200	Weak transcription	A549	lung
16	chr10:6218600-6224200	Weak transcription	Gastric	stomach
17	chr10:6218800-6227800	Weak transcription	NHDF-Ad	bronchial
18	chr10:6219000-6224600	Weak transcription	Aorta	Aorta
19	chr10:6219000-6224600	Weak transcription	Small Intestine	intestine
20	chr10:6219000-6240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:6219200-6223200	Weak transcription	Fetal Thymus	thymus
22	chr10:6219200-6224000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr10:6219200-6224000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr10:6219200-6224200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:6219200-6224200	Weak transcription	Brain Angular Gyrus	brain
26	chr10:6219200-6224200	Weak transcription	HSMM	muscle
27	chr10:6219200-6224400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:6219200-6224800	Weak transcription	Stomach Mucosa	stomach
29	chr10:6219200-6226800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr10:6219200-6227000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr10:6219200-6227400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr10:6219200-6228200	Weak transcription	HMEC	breast
33	chr10:6219200-6228200	Weak transcription	NH-A	brain
34	chr10:6219200-6232800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr10:6219200-6236400	Weak transcription	Primary T cells from cord blood	blood
36	chr10:6219200-6240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr10:6219200-6242200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr10:6219200-6242400	Weak transcription	NHEK	skin
39	chr10:6220000-6224200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:6220200-6228200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:6220400-6222000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr10:6220400-6223400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr10:6220400-6224200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:6220400-6224400	Weak transcription	Pancreas	Pancrea
45	chr10:6220400-6224800	Weak transcription	Thymus	Thymus
46	chr10:6220400-6227200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:6220400-6227200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr10:6220400-6233200	Weak transcription	NHLF	lung
49	chr10:6220400-6242600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr10:6220600-6222000	Bivalent Enhancer	Fetal Stomach	stomach

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