Variant report

Variant	rs17097023
Chromosome Location	chr14:31123347-31123348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31122938..31124536-chr14:31343628..31346007,2	K562	blood:
2	chr14:31121612..31124772-chr14:31129285..31132285,3	K562	blood:
3	chr14:31122619..31124772-chr14:31129333..31132285,2	K562	blood:

Variant related genes	Relation type
ENSG00000100473	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10130830	0.80[CHB][hapmap]
rs10131166	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10136727	0.81[ASN][1000 genomes]
rs10141944	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10142331	0.80[CHB][hapmap]
rs10146357	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10147257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10149966	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1113946	0.88[CEU][hapmap]
rs11156637	0.88[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1123860	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11622076	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11622786	0.88[AMR][1000 genomes]
rs11623154	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11625381	0.80[CHB][hapmap]
rs11627421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11628700	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11846293	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11846408	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11851205	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12586678	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12882048	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12882931	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12888568	0.88[CEU][hapmap];0.88[AMR][1000 genomes]
rs12894186	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs142983	0.84[CEU][hapmap]
rs17096941	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17097160	0.88[CEU][hapmap]
rs172946	0.80[CHB][hapmap]
rs2038451	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs2057284	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2070340	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2273520	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2273521	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2273522	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs229144	0.80[CHB][hapmap]
rs229152	0.80[CHB][hapmap]
rs229154	0.80[CHB][hapmap]
rs229161	0.80[CHB][hapmap]
rs229164	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs229175	0.80[CEU][hapmap]
rs229190	0.80[CHB][hapmap]
rs229211	0.80[CHB][hapmap]
rs229244	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs230364	0.80[CHB][hapmap]
rs230366	0.80[CHB][hapmap]
rs2378780	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2378782	0.80[CHB][hapmap]
rs28567474	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34935871	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35069045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35389182	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3736773	0.89[CEU][hapmap];0.87[AMR][1000 genomes]
rs4430662	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs447853	0.90[CHB][hapmap]
rs59856095	0.80[AMR][1000 genomes]
rs61976712	0.82[AMR][1000 genomes]
rs61976741	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6571356	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6571357	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6571361	0.80[CHB][hapmap]
rs7141333	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7141624	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7147530	0.80[CHB][hapmap]
rs7149113	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7153509	0.80[CHB][hapmap]
rs7493549	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs761956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8006314	0.80[CHB][hapmap]
rs8008094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8012325	0.81[EUR][1000 genomes]
rs8013017	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8015536	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs8018993	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8019637	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9322864	1.00[CHB][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	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
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31092200-31133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:31092200-31133200	Weak transcription	Esophagus	oesophagus
3	chr14:31093600-31127200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:31093800-31159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:31094200-31145200	Weak transcription	Small Intestine	intestine
6	chr14:31096000-31167400	Weak transcription	Gastric	stomach
7	chr14:31097200-31133800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:31099600-31133800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:31099600-31134000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:31100600-31123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:31102000-31123600	Strong transcription	NHDF-Ad	bronchial
12	chr14:31102800-31128800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:31104200-31133200	Weak transcription	Aorta	Aorta
14	chr14:31109400-31125200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr14:31109400-31125800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr14:31110600-31141800	Weak transcription	Stomach Mucosa	stomach
17	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
18	chr14:31114400-31134000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:31115000-31124000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:31115000-31124800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr14:31115000-31124800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:31115000-31133400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:31115000-31167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:31115200-31123800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:31115200-31125400	Strong transcription	HepG2	liver
26	chr14:31115200-31138600	Weak transcription	Fetal Heart	heart
27	chr14:31115200-31159600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:31115400-31125000	Weak transcription	Brain Germinal Matrix	brain
29	chr14:31115400-31133000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:31115400-31133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:31115600-31130600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:31116000-31126400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:31116400-31133800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:31116600-31128800	Weak transcription	Right Atrium	heart
35	chr14:31116800-31132800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:31117200-31130600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:31117200-31134000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr14:31117400-31125400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:31117600-31133600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr14:31117600-31133800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:31117800-31125000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr14:31117800-31125200	Strong transcription	Adipose Nuclei	Adipose
43	chr14:31117800-31126200	Strong transcription	NHLF	lung
44	chr14:31117800-31126400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr14:31117800-31126400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr14:31117800-31126400	Strong transcription	Fetal Intestine Large	intestine
47	chr14:31117800-31126400	Strong transcription	Placenta	Placenta
48	chr14:31117800-31126400	Strong transcription	Osteobl	bone
49	chr14:31117800-31126600	Strong transcription	Dnd41	blood
50	chr14:31117800-31132800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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