Variant report

Variant	rs11849561
Chromosome Location	chr14:105751180-105751181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105750774..105752528-chr9:37798618..37800986,2	MCF-7	breast:
2	chr14:105434061..105436164-chr14:105749660..105751938,2	MCF-7	breast:
3	chr14:105750078..105754137-chr14:105766184..105768818,3	K562	blood:
4	chr14:105746677..105748393-chr14:105748602..105751263,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122741	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000107371	Chromatin interaction
ENSG00000185024	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11848434	1.00[MKK][hapmap]
rs11849513	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11850884	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers 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	94 gene(s)	inside rSNPs	diseases
5	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS 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	86 gene(s)	inside rSNPs	diseases
8	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv902441	chr14:105602619-105803170	Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv902442	chr14:105602619-105803170	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv1817919	chr14:105605199-105803170	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	27 gene(s)	inside rSNPs	diseases
13	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
14	nsv566186	chr14:105675701-105779305	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv902466	chr14:105704465-105803170	Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	esv29986	chr14:105707292-105803170	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv832887	chr14:105717339-105803170	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	nsv832888	chr14:105717339-105803170	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
19	nsv1049929	chr14:105718240-105772037	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
20	nsv1052355	chr14:105718240-105789157	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 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	chr14:105715800-105766000	Weak transcription	Fetal Kidney	kidney
2	chr14:105721800-105759800	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:105722000-105760600	Weak transcription	NH-A	brain
4	chr14:105724200-105758600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:105729200-105754200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:105731200-105759000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:105732000-105751600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:105738200-105752400	Weak transcription	Fetal Intestine Large	intestine
9	chr14:105739200-105759000	Weak transcription	Brain Germinal Matrix	brain
10	chr14:105739800-105753400	Weak transcription	Esophagus	oesophagus
11	chr14:105739800-105765800	Weak transcription	NHEK	skin
12	chr14:105741600-105759000	Weak transcription	Small Intestine	intestine
13	chr14:105742000-105753200	Weak transcription	Right Ventricle	heart
14	chr14:105742200-105751400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:105742200-105765600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:105742200-105765800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:105742400-105760400	Weak transcription	Osteobl	bone
18	chr14:105744600-105757000	Weak transcription	Psoas Muscle	Psoas
19	chr14:105744600-105766000	Weak transcription	HSMMtube	muscle
20	chr14:105744800-105751600	Weak transcription	Ovary	ovary
21	chr14:105745400-105754000	Strong transcription	Fetal Intestine Small	intestine
22	chr14:105745400-105760600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:105747000-105757000	Weak transcription	Thymus	Thymus
24	chr14:105747000-105765600	Weak transcription	Colonic Mucosa	Colon
25	chr14:105747000-105766000	Weak transcription	Aorta	Aorta
26	chr14:105747200-105765600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:105748000-105752000	Enhancers	Primary hematopoietic stem cells	blood
28	chr14:105748200-105757000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:105748200-105760400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:105748200-105765800	Weak transcription	HMEC	breast
31	chr14:105748400-105759600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:105748600-105752200	Weak transcription	Fetal Brain Male	brain
33	chr14:105748600-105752800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:105748600-105754000	Strong transcription	Fetal Muscle Leg	muscle
35	chr14:105748600-105765800	Weak transcription	A549	lung
36	chr14:105748800-105760400	Weak transcription	Fetal Lung	lung
37	chr14:105749400-105751200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr14:105749400-105752600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:105749400-105752800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:105749400-105753200	Strong transcription	Fetal Stomach	stomach
41	chr14:105749600-105751800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:105749600-105752400	Strong transcription	HepG2	liver
43	chr14:105749600-105760200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:105749600-105766200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:105749800-105751200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:105749800-105751200	Enhancers	HUVEC	blood vessel
47	chr14:105749800-105751800	Enhancers	Brain Cingulate Gyrus	brain
48	chr14:105749800-105752400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:105749800-105752600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:105750000-105751800	Enhancers	Brain Angular Gyrus	brain

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