Variant report

Variant	rs11622176
Chromosome Location	chr14:78124471-78124472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78123704..78125775-chr14:78174228..78176042,2	MCF-7	breast:
2	chr14:78124444..78126288-chr14:78139672..78142055,2	K562	blood:

Variant related genes	Relation type
ENSG00000100601	Chromatin interaction
ENSG00000119705	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10162548	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11621162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621593	0.80[CEU][hapmap];0.81[TSI][hapmap]
rs11622293	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622449	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs11623898	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624063	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625029	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625607	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625647	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11626900	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752428	1.00[CHB][hapmap]
rs17752707	1.00[CHB][hapmap]
rs17752726	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs17825434	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825620	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032745	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2111829	0.80[CEU][hapmap];0.84[CHD][hapmap];0.80[TSI][hapmap]
rs2112135	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28445066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs28541608	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28607620	1.00[ASN][1000 genomes]
rs28651563	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4461000	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45444693	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45465691	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4996830	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.93[MKK][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs55636050	1.00[ASN][1000 genomes]
rs55922310	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55995783	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003103	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56025136	0.88[ASN][1000 genomes]
rs56060413	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56065232	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56109335	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57615727	1.00[ASN][1000 genomes]
rs58171071	1.00[ASN][1000 genomes]
rs59200674	1.00[ASN][1000 genomes]
rs6493	0.80[CEU][hapmap];0.84[CHD][hapmap];0.81[TSI][hapmap]
rs6494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140838	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146719	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7148685	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155062	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685214	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685216	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685219	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685222	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685223	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685230	1.00[ASN][1000 genomes]
rs72685232	1.00[ASN][1000 genomes]
rs72685244	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685260	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685273	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685280	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685281	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685293	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685296	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685300	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687205	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687216	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687217	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687218	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687222	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687228	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687229	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687246	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687250	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687251	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687261	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688824	1.00[ASN][1000 genomes]
rs8015313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv9155	chr14:78118162-78133830	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv32836	chr14:78119497-78124958	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv869872	chr14:78119527-78161340	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11622176	SNW1	cis	parietal	SCAN
rs11622176	PAPLN	cis	parietal	SCAN
rs11622176	ALDH6A1	cis	parietal	SCAN
rs11622176	RPS6KL1	cis	cerebellum	SCAN
rs11622176	ALKBH1	cis	lymphoblastoid	seeQTL
rs11622176	PSEN1	cis	cerebellum	SCAN
rs11622176	NEK9	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78119800-78125400	Enhancers	Adipose Nuclei	Adipose
2	chr14:78120200-78127600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr14:78120600-78126200	Weak transcription	Fetal Brain Female	brain
4	chr14:78120600-78126800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr14:78120600-78138200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:78120800-78124600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:78121400-78126400	Weak transcription	Fetal Brain Male	brain
8	chr14:78121400-78126600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:78121400-78126600	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:78121400-78129800	Weak transcription	Right Atrium	heart
11	chr14:78121400-78139800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:78121800-78126000	Weak transcription	Primary B cells from cord blood	blood
13	chr14:78121800-78126400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:78121800-78126400	Weak transcription	Brain Anterior Caudate	brain
15	chr14:78121800-78126600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:78121800-78126600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr14:78121800-78126600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:78121800-78127600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:78121800-78139800	Weak transcription	Gastric	stomach
20	chr14:78122000-78124600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:78122000-78124600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:78122000-78124600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr14:78122000-78124800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:78122000-78125000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr14:78122000-78126400	Weak transcription	Brain Germinal Matrix	brain
26	chr14:78122000-78126400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:78122000-78127200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:78122000-78127200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:78122000-78127200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:78122000-78139600	Weak transcription	Fetal Intestine Large	intestine
31	chr14:78122000-78139800	Weak transcription	Pancreas	Pancrea
32	chr14:78122200-78126600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:78122200-78127000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:78122400-78126400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr14:78123000-78137400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:78123200-78126400	Weak transcription	HepG2	liver
37	chr14:78123400-78138800	Weak transcription	Liver	Liver
38	chr14:78123600-78125200	Weak transcription	Right Ventricle	heart
39	chr14:78123800-78126600	Weak transcription	Spleen	Spleen
40	chr14:78123800-78136600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:78123800-78139000	Weak transcription	Left Ventricle	heart
42	chr14:78124000-78125000	Weak transcription	Lung	lung
43	chr14:78124000-78129400	Weak transcription	HUVEC	blood vessel
44	chr14:78124200-78126000	Enhancers	Monocytes-CD14+_RO01746	blood

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