Variant report

Variant	rs550620378
Chromosome Location	chr10:6214820-6214821
allele	C/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	chr10:6213667..6215175-chr10:6232475..6234152,2	MCF-7	breast:
2	chr10:6214041..6215825-chr10:6272715..6274851,2	K562	blood:
3	chr10:6213323..6215618-chr13:111812955..111815172,2	MCF-7	breast:
4	chr10:6214505..6218231-chr10:6225488..6229463,4	K562	blood:
5	chr10:6192230..6193807-chr10:6214197..6216329,2	K562	blood:
6	chr10:6214556..6217350-chr10:6223472..6225536,2	MCF-7	breast:
7	chr10:6213961..6227951-chr10:6240689..6247831,28	MCF-7	breast:
8	chr10:6213842..6217578-chr10:6440215..6444300,4	MCF-7	breast:
9	chr10:6209809..6221866-chr10:6241112..6247882,17	MCF-7	breast:
10	chr10:6213996..6218900-chr10:6219033..6223429,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213994	Chromatin interaction
ENSG00000170525	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6188400-6225200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:6206600-6220000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:6207000-6218600	Weak transcription	Fetal Lung	lung
4	chr10:6207000-6219000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr10:6207000-6219400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr10:6207000-6244400	Weak transcription	Hela-S3	cervix
7	chr10:6207200-6217800	Weak transcription	HMEC	breast
8	chr10:6207200-6218800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:6207600-6218600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr10:6209000-6216400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:6209400-6218200	Weak transcription	Fetal Brain Female	brain
12	chr10:6209400-6224400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:6209800-6217600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr10:6210000-6215000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr10:6210000-6215800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:6210200-6220800	Enhancers	Left Ventricle	heart
17	chr10:6210600-6216800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr10:6210600-6217800	Weak transcription	NHEK	skin
19	chr10:6210800-6215000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr10:6210800-6217800	Weak transcription	K562	blood
21	chr10:6211000-6221800	Enhancers	Adipose Nuclei	Adipose
22	chr10:6211200-6215600	Enhancers	Duodenum Mucosa	Duodenum
23	chr10:6211200-6218000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr10:6211200-6221600	Enhancers	Psoas Muscle	Psoas
25	chr10:6211600-6215200	Weak transcription	Aorta	Aorta
26	chr10:6212200-6215200	Enhancers	GM12878-XiMat	blood
27	chr10:6212400-6215200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr10:6212400-6217200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr10:6212400-6220200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr10:6212400-6224600	Weak transcription	Dnd41	blood
31	chr10:6212600-6215000	Enhancers	NHDF-Ad	bronchial
32	chr10:6212600-6215400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr10:6212600-6215600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr10:6212600-6216200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:6212600-6219000	Enhancers	Fetal Muscle Trunk	muscle
36	chr10:6212800-6215000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:6212800-6217400	Weak transcription	Stomach Mucosa	stomach
38	chr10:6213000-6215000	Weak transcription	Fetal Intestine Large	intestine
39	chr10:6213000-6215800	Enhancers	HUVEC	blood vessel
40	chr10:6213000-6221600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr10:6213200-6215800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr10:6213200-6216000	Enhancers	Pancreas	Pancrea
43	chr10:6213200-6217400	Enhancers	Right Ventricle	heart
44	chr10:6213400-6215400	Enhancers	Primary B cells from peripheral blood	blood
45	chr10:6213400-6215400	Enhancers	Small Intestine	intestine
46	chr10:6213400-6215800	Enhancers	Spleen	Spleen
47	chr10:6213400-6216600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr10:6213600-6215200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr10:6213600-6216000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr10:6213600-6216600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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