Variant report

Variant	rs11620688
Chromosome Location	chr14:105741261-105741262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105718698..105721537-chr14:105739124..105741867,2	MCF-7	breast:
2	chr14:105665489..105668109-chr14:105740976..105743490,2	MCF-7	breast:
3	chr14:105670960..105673149-chr14:105739734..105742723,2	MCF-7	breast:
4	chr14:105668630..105671458-chr14:105740355..105743089,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10139839	1.00[CHD][hapmap]
rs11623856	1.00[AMR][1000 genomes]
rs12100473	1.00[CHD][hapmap]
rs2018404	1.00[YRI][hapmap]
rs2816644	1.00[CHD][hapmap]
rs28725385	1.00[CHD][hapmap]
rs3784227	1.00[MKK][hapmap]
rs3784230	1.00[YRI][hapmap]
rs4983339	1.00[CHD][hapmap]
rs9972231	1.00[LWK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 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
21	esv3325328	chr14:105740507-105745005	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105715600-105749400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:105715800-105766000	Weak transcription	Fetal Kidney	kidney
3	chr14:105716400-105747800	Weak transcription	Hela-S3	cervix
4	chr14:105718600-105746600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:105719600-105748200	Weak transcription	Fetal Thymus	thymus
6	chr14:105720400-105749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:105720600-105748400	Weak transcription	HepG2	liver
8	chr14:105721800-105759800	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:105722000-105760600	Weak transcription	NH-A	brain
10	chr14:105722200-105741600	Weak transcription	HSMMtube	muscle
11	chr14:105722400-105750000	Weak transcription	Primary B cells from cord blood	blood
12	chr14:105723400-105750200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:105724000-105744400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:105724200-105758600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:105726200-105750400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:105726200-105750600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:105729000-105741400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:105729000-105741400	Weak transcription	Psoas Muscle	Psoas
19	chr14:105729200-105749400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:105729200-105754200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:105730600-105748200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:105730800-105741800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:105731000-105741600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:105731200-105759000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:105732000-105751600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:105734400-105747400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:105734800-105744200	Weak transcription	Left Ventricle	heart
28	chr14:105735000-105741400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:105735200-105750200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:105735200-105750400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:105735400-105743400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:105735400-105748000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:105735800-105746800	Weak transcription	Dnd41	blood
34	chr14:105736000-105745400	Weak transcription	GM12878-XiMat	blood
35	chr14:105736000-105751000	Weak transcription	NHLF	lung
36	chr14:105736200-105741400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr14:105736200-105746400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr14:105736400-105745800	Weak transcription	Fetal Brain Female	brain
39	chr14:105736400-105746000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:105736400-105748000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr14:105736400-105750000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:105737200-105742200	Enhancers	Pancreas	Pancrea
43	chr14:105737800-105746400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:105738000-105741400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:105738000-105748000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:105738200-105741400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr14:105738200-105741600	Weak transcription	Brain Anterior Caudate	brain
48	chr14:105738200-105752400	Weak transcription	Fetal Intestine Large	intestine
49	chr14:105738600-105747000	Weak transcription	Primary T cells from cord blood	blood
50	chr14:105739000-105741400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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