Variant report

Variant	rs12243955
Chromosome Location	chr10:6320951-6320952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6319975..6324028-chr10:6337597..6341506,5	MCF-7	breast:
2	chr10:6319800..6323554-chr10:6441503..6444162,3	MCF-7	breast:
3	chr10:6320265..6323199-chr10:6333392..6336279,3	MCF-7	breast:
4	chr10:6243668..6247308-chr10:6319585..6323356,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170525	Chromatin interaction
ENSG00000213994	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10905861	1.00[GIH][hapmap]
rs55778376	1.00[EUR][1000 genomes]
rs55824986	1.00[EUR][1000 genomes]
rs56213789	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59586022	1.00[EUR][1000 genomes]
rs7077335	1.00[TSI][hapmap]
rs7896447	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7896759	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902051	1.00[EUR][1000 genomes]
rs7904795	1.00[EUR][1000 genomes]
rs7910911	1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv894836	chr10:6246678-6435374	Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv430123	chr10:6309402-6448384	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6313800-6321000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:6314400-6321800	Weak transcription	Gastric	stomach
3	chr10:6316600-6321600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr10:6317400-6321000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:6317400-6321400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:6317400-6321800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:6317400-6321800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr10:6317600-6321600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:6317600-6321600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:6317600-6322200	Weak transcription	Right Atrium	heart
11	chr10:6317800-6322000	Weak transcription	Brain Anterior Caudate	brain
12	chr10:6317800-6332600	Weak transcription	Thymus	Thymus
13	chr10:6318000-6321200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr10:6318000-6321400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:6318000-6321400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr10:6318000-6321400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr10:6318000-6321600	Weak transcription	HSMMtube	muscle
18	chr10:6318000-6321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:6318000-6321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:6318000-6321800	Weak transcription	Aorta	Aorta
21	chr10:6318000-6321800	Weak transcription	Right Ventricle	heart
22	chr10:6318000-6321800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr10:6318000-6322000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr10:6318000-6322200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr10:6318000-6322200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr10:6318000-6322200	Weak transcription	Spleen	Spleen
27	chr10:6318000-6337600	Weak transcription	Primary B cells from cord blood	blood
28	chr10:6318200-6321000	Weak transcription	NHDF-Ad	bronchial
29	chr10:6318200-6321200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr10:6318200-6321200	Weak transcription	HUVEC	blood vessel
31	chr10:6318200-6321200	Weak transcription	NH-A	brain
32	chr10:6318200-6321200	Weak transcription	NHLF	lung
33	chr10:6318200-6321200	Weak transcription	Osteobl	bone
34	chr10:6318200-6321400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr10:6318200-6321400	Weak transcription	HMEC	breast
36	chr10:6318200-6321400	Weak transcription	HSMM	muscle
37	chr10:6318200-6321600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:6318200-6321800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr10:6318200-6321800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:6318200-6321800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr10:6318200-6322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr10:6318200-6323400	Weak transcription	Brain Substantia Nigra	brain
43	chr10:6318200-6333000	Weak transcription	Primary T cells from cord blood	blood
44	chr10:6318200-6333200	Weak transcription	Adipose Nuclei	Adipose
45	chr10:6318200-6337800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr10:6318400-6321000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr10:6318600-6321800	Weak transcription	Small Intestine	intestine
48	chr10:6318600-6322000	Weak transcription	Brain Hippocampus Middle	brain
49	chr10:6318600-6322200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr10:6318600-6322200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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