Variant report

Variant	rs16861294
Chromosome Location	chr3:113453891-113453892
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:113421583..113423270-chr3:113453056..113454947,2	K562	blood:
2	chr3:113445084..113447800-chr3:113453613..113455367,2	MCF-7	breast:
3	chr3:113414926..113417084-chr3:113452922..113455354,2	MCF-7	breast:
4	chr3:113453891..113455745-chr3:113519659..113522484,2	K562	blood:
5	chr3:113415208..113417503-chr3:113452735..113455867,4	K562	blood:
6	chr3:113406865..113408762-chr3:113453846..113456559,2	K562	blood:
7	chr3:113440561..113444692-chr3:113452909..113456959,4	K562	blood:

Variant related genes	Relation type
ENSG00000114573	Chromatin interaction
ENSG00000176542	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11915029	1.00[AMR][1000 genomes]
rs16861297	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7632302	1.00[AMR][1000 genomes]
rs7648021	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1799124	chr3:113426201-113468350	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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
4	nsv482804	chr3:113432431-113581672	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv829678	chr3:113446177-113633053	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer 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	26 gene(s)	inside rSNPs	diseases
6	nsv877351	chr3:113450495-113637424	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113432800-113463000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:113432800-113463000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:113433000-113460000	Weak transcription	Aorta	Aorta
4	chr3:113435000-113463000	Weak transcription	Brain Germinal Matrix	brain
5	chr3:113435200-113463000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:113435200-113463000	Weak transcription	Esophagus	oesophagus
7	chr3:113435400-113456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:113435400-113462600	Weak transcription	Brain Angular Gyrus	brain
9	chr3:113435600-113462200	Weak transcription	Thymus	Thymus
10	chr3:113436000-113462800	Weak transcription	Spleen	Spleen
11	chr3:113437200-113456600	Weak transcription	Pancreas	Pancrea
12	chr3:113437200-113464000	Weak transcription	Lung	lung
13	chr3:113440400-113455200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr3:113440600-113455000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:113440800-113455000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:113440800-113455200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr3:113440800-113458200	Weak transcription	HSMMtube	muscle
18	chr3:113440800-113461200	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:113440800-113461800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:113440800-113463000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:113440800-113463600	Weak transcription	Ovary	ovary
22	chr3:113441000-113455600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:113441200-113455600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr3:113441200-113455600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr3:113441400-113455200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:113441400-113455600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:113441400-113455600	Weak transcription	Fetal Intestine Large	intestine
28	chr3:113441400-113462800	Weak transcription	Fetal Brain Male	brain
29	chr3:113441800-113455200	Weak transcription	Adipose Nuclei	Adipose
30	chr3:113442200-113462800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:113442200-113463400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr3:113442400-113454400	Weak transcription	NHLF	lung
33	chr3:113442400-113455600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr3:113442400-113455600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr3:113442400-113455600	Weak transcription	Brain Hippocampus Middle	brain
36	chr3:113442400-113462200	Weak transcription	NH-A	brain
37	chr3:113442600-113455000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr3:113442600-113455200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:113442600-113455200	Weak transcription	Fetal Kidney	kidney
40	chr3:113442600-113455600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:113442600-113460000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr3:113442800-113455200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr3:113443000-113455600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:113443000-113461000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr3:113443200-113455600	Weak transcription	HMEC	breast
46	chr3:113443600-113455200	Weak transcription	Osteobl	bone
47	chr3:113443600-113455400	Weak transcription	HUVEC	blood vessel
48	chr3:113443600-113455600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr3:113443800-113455400	Weak transcription	Psoas Muscle	Psoas
50	chr3:113444000-113455600	Weak transcription	Duodenum Mucosa	Duodenum

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