Variant report

Variant	rs11621991
Chromosome Location	chr14:31379614-31379615
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31379170..31380881-chr14:31494382..31497004,2	MCF-7	breast:
2	chr14:31357417..31359632-chr14:31378177..31380284,2	K562	blood:
3	chr14:31345025..31346912-chr14:31378500..31381004,2	K562	blood:

Variant related genes	Relation type
ENSG00000258525	Chromatin interaction
ENSG00000100473	Chromatin interaction
ENSG00000196792	Chromatin interaction
ENSG00000100478	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10129452	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10135412	0.83[ASN][1000 genomes]
rs10138011	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10140025	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10140238	0.85[ASN][1000 genomes]
rs10145545	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs10147690	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs10148294	0.86[ASN][1000 genomes]
rs10151219	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs1033559	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs10444696	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10483357	0.83[CHB][hapmap]
rs10872846	0.94[ASN][1000 genomes]
rs10872848	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs12019004	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs12434740	0.93[ASN][1000 genomes]
rs12436401	0.80[ASN][1000 genomes]
rs12590617	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs12894339	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17097477	0.94[ASN][1000 genomes]
rs17448194	0.82[ASN][1000 genomes]
rs179707	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs179710	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs179717	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs179723	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs179734	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs179736	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs179737	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs179744	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1967699	0.92[ASN][1000 genomes]
rs2273171	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2378813	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs35422372	0.95[ASN][1000 genomes]
rs4340230	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4981811	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4981812	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs6571369	0.83[CHB][hapmap]
rs6571380	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs67648672	0.93[ASN][1000 genomes]
rs7140306	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7140667	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7150642	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7153141	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs7155894	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs766146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs8018402	0.80[ASN][1000 genomes]
rs9322865	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9322866	0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs9322869	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832762	chr14:31238634-31414038	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv564173	chr14:31358377-31400682	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv901584	chr14:31358377-31409010	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv564174	chr14:31365884-31400682	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv564175	chr14:31365884-31409010	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv564176	chr14:31365884-31413492	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv901585	chr14:31365884-31433473	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31345400-31382600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:31346600-31382600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:31347000-31384600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:31347000-31394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:31355800-31414400	Weak transcription	Spleen	Spleen
7	chr14:31356200-31412800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
9	chr14:31360200-31435600	Weak transcription	Gastric	stomach
10	chr14:31360400-31381800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:31361600-31380600	Weak transcription	Stomach Mucosa	stomach
12	chr14:31361600-31384400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:31361800-31394200	Weak transcription	Fetal Brain Male	brain
14	chr14:31362000-31381400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:31362200-31414400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
17	chr14:31362600-31382400	Strong transcription	Liver	Liver
18	chr14:31363000-31394400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
20	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
21	chr14:31363400-31383000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr14:31363800-31381400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:31364400-31415400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:31364800-31393200	Weak transcription	Brain Substantia Nigra	brain
25	chr14:31365600-31380000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:31365600-31380400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:31365600-31381000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:31365800-31402200	Weak transcription	Thymus	Thymus
29	chr14:31365800-31414200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
31	chr14:31367000-31381600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr14:31367600-31381600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr14:31368200-31380200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr14:31369800-31381800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:31370000-31381400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:31370000-31381600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:31370000-31381800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:31370000-31393600	Weak transcription	Lung	lung
39	chr14:31370000-31414400	Weak transcription	Pancreas	Pancrea
40	chr14:31370400-31381600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:31370400-31381800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:31370600-31381400	Strong transcription	Dnd41	blood
43	chr14:31370600-31381600	Strong transcription	HSMM	muscle
44	chr14:31370600-31382000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:31370800-31381800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:31371000-31383000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr14:31372400-31381400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:31372400-31414400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:31372600-31381200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr14:31372600-31381400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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