Variant report

Variant	rs602395
Chromosome Location	chr10:6218883-6218884
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6191565..6193400-chr10:6217328..6219694,2	MCF-7	breast:
2	chr10:6213961..6227951-chr10:6240689..6247831,28	MCF-7	breast:
3	chr10:6209809..6221866-chr10:6241112..6247882,17	MCF-7	breast:
4	chr10:6213996..6218900-chr10:6219033..6223429,8	K562	blood:
5	chr10:6211082..6212938-chr10:6217680..6219738,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213994	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000201581	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs613960	0.91[CHB][hapmap];0.92[MKK][hapmap]
rs629298	0.91[CHB][hapmap]
rs641736	0.82[CHB][hapmap];0.82[GIH][hapmap];0.84[MKK][hapmap]
rs642104	0.91[CHB][hapmap]
rs643867	0.91[CHB][hapmap]
rs654876	0.91[CHB][hapmap];0.85[YRI][hapmap]
rs657523	0.87[YRI][hapmap]
rs657600	0.87[YRI][hapmap]
rs658386	0.91[CHB][hapmap];0.82[GIH][hapmap];0.90[LWK][hapmap];0.87[YRI][hapmap]
rs669534	0.91[CHB][hapmap];0.82[GIH][hapmap];0.90[LWK][hapmap];0.87[YRI][hapmap]
rs678395	0.85[YRI][hapmap]

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:103 , 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	chr10:6207000-6219000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr10:6207000-6219400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr10:6207000-6244400	Weak transcription	Hela-S3	cervix
6	chr10:6209400-6224400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:6210200-6220800	Enhancers	Left Ventricle	heart
8	chr10:6211000-6221800	Enhancers	Adipose Nuclei	Adipose
9	chr10:6211200-6221600	Enhancers	Psoas Muscle	Psoas
10	chr10:6212400-6220200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr10:6212400-6224600	Weak transcription	Dnd41	blood
12	chr10:6212600-6219000	Enhancers	Fetal Muscle Trunk	muscle
13	chr10:6213000-6221600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:6213600-6219000	Enhancers	Ovary	ovary
15	chr10:6214000-6219000	Enhancers	Right Atrium	heart
16	chr10:6214200-6239800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:6214400-6219000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:6214400-6219000	Enhancers	Brain Cingulate Gyrus	brain
19	chr10:6214400-6219000	Enhancers	Brain Substantia Nigra	brain
20	chr10:6214400-6220200	Weak transcription	Thymus	Thymus
21	chr10:6214400-6222600	Enhancers	Brain Hippocampus Middle	brain
22	chr10:6214400-6224000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr10:6214400-6224400	Weak transcription	HSMMtube	muscle
24	chr10:6214600-6219200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:6215000-6237200	Weak transcription	Primary B cells from cord blood	blood
26	chr10:6215200-6224600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr10:6215400-6223200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr10:6215600-6219200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr10:6215600-6221000	Weak transcription	Colonic Mucosa	Colon
30	chr10:6215800-6219200	Enhancers	Brain Angular Gyrus	brain
31	chr10:6216000-6219000	Weak transcription	Pancreas	Pancrea
32	chr10:6216000-6219600	Weak transcription	Fetal Heart	heart
33	chr10:6216200-6237400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr10:6216400-6219200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr10:6216400-6220800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:6216600-6219200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:6216600-6219800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr10:6216600-6220200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr10:6216600-6221800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr10:6216600-6230000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr10:6217200-6219000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr10:6217200-6219200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr10:6217200-6219200	Enhancers	HSMM	muscle
44	chr10:6217200-6220400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr10:6217200-6221600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:6217400-6224000	Weak transcription	Liver	Liver
47	chr10:6217600-6219000	Enhancers	Small Intestine	intestine
48	chr10:6217800-6219200	Enhancers	Primary T cells from cord blood	blood
49	chr10:6217800-6219200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr10:6217800-6219200	Enhancers	HMEC	breast

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