Variant report

Variant	rs6730446
Chromosome Location	chr2:111915223-111915224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111914389..111917112-chr2:111917290..111919823,3	MCF-7	breast:
2	chr2:111914059..111916689-chr2:111925221..111929362,3	MCF-7	breast:
3	chr2:111908889..111912650-chr2:111913832..111916380,3	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10165671	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs10167160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10182176	1.00[AMR][1000 genomes]
rs10189017	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10190492	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10193696	0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10193890	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10196066	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs10196162	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10196180	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10199467	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10201315	0.80[YRI][hapmap]
rs10201912	1.00[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13384042	0.86[LWK][hapmap];0.80[YRI][hapmap]
rs13388484	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13389130	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392035	1.00[AMR][1000 genomes]
rs13394484	0.90[YRI][hapmap]
rs13402681	1.00[AMR][1000 genomes]
rs13421194	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13421457	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452430	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41309782	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56866966	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59094500	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60702028	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61178006	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6739435	1.00[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6742633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6743841	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948380	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948389	1.00[AMR][1000 genomes]
rs73954946	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954948	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954949	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954951	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954962	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954963	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954965	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954977	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954982	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954983	0.86[AFR][1000 genomes];1.00[AMR][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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111881800-111919800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:111884800-111925400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:111893600-111916800	Weak transcription	HSMM	muscle
4	chr2:111893600-111918600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:111894200-111917200	Weak transcription	NH-A	brain
6	chr2:111897800-111916600	Weak transcription	Psoas Muscle	Psoas
7	chr2:111898800-111920600	Weak transcription	Fetal Kidney	kidney
8	chr2:111904400-111920800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:111906000-111915800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr2:111906400-111919600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:111906600-111927000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:111906800-111918200	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr2:111907400-111917000	Strong transcription	Placenta	Placenta
14	chr2:111907400-111920000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:111907400-111920200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:111907600-111915400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:111907600-111919200	Strong transcription	Fetal Intestine Small	intestine
18	chr2:111907600-111919200	Strong transcription	Fetal Stomach	stomach
19	chr2:111907600-111919800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:111908000-111915800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:111908000-111917200	Strong transcription	Duodenum Mucosa	Duodenum
22	chr2:111908000-111920000	Strong transcription	Fetal Intestine Large	intestine
23	chr2:111909200-111919200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:111909400-111916400	Strong transcription	HSMMtube	muscle
25	chr2:111909400-111916600	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:111909600-111918600	Weak transcription	Fetal Brain Male	brain
27	chr2:111909600-111922600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:111910000-111925200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:111910200-111916600	Weak transcription	Right Ventricle	heart
30	chr2:111910200-111916600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:111910200-111917200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:111910200-111917400	Weak transcription	NHLF	lung
33	chr2:111910200-111922800	Weak transcription	Aorta	Aorta
34	chr2:111910400-111915400	Weak transcription	Spleen	Spleen
35	chr2:111910400-111916800	Weak transcription	Fetal Heart	heart
36	chr2:111910400-111919600	Weak transcription	Small Intestine	intestine
37	chr2:111910400-111922400	Weak transcription	Ovary	ovary
38	chr2:111910600-111918000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:111911000-111916000	Genic enhancers	HepG2	liver
40	chr2:111911400-111919000	Weak transcription	K562	blood
41	chr2:111911600-111918600	Weak transcription	Colonic Mucosa	Colon
42	chr2:111912000-111916800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr2:111912400-111915600	Genic enhancers	Pancreas	Pancrea
44	chr2:111912400-111917200	Strong transcription	Hela-S3	cervix
45	chr2:111912400-111919800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:111912600-111915600	Enhancers	Brain Anterior Caudate	brain
47	chr2:111912600-111915800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr2:111912600-111916800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr2:111912600-111917000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr2:111912800-111915600	Enhancers	Esophagus	oesophagus

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