Variant report

Variant	rs11656840
Chromosome Location	chr17:17837354-17837355
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17835824..17837359-chr17:17839112..17843100,3	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10048206	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1052299	0.82[CEU][hapmap]
rs11078400	0.91[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11078403	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11078404	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11078405	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11078406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078407	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078408	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs1108648	0.80[CEU][hapmap]
rs11650649	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11650890	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11657074	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11657773	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11657845	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11658309	0.85[AMR][1000 genomes]
rs11869536	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11870660	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs11871899	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12452219	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12452254	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12600546	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12603148	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12936037	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12941039	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs12943500	0.91[CEU][hapmap]
rs12953299	0.83[CEU][hapmap]
rs16960744	0.82[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs2236513	0.82[CEU][hapmap]
rs2350977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28428991	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955371	0.91[CEU][hapmap]
rs2955382	0.81[CEU][hapmap]
rs3183702	0.86[CEU][hapmap]
rs35451946	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4077198	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4244602	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4257260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4299203	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs4321247	0.89[EUR][1000 genomes]
rs4341796	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4343339	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4413022	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4414547	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4470201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4471742	0.83[EUR][1000 genomes]
rs4534911	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4553680	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4616340	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4924823	0.91[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4925120	0.82[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes]
rs4925123	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4925125	0.95[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4925126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4925129	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4925130	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5002487	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57728924	0.82[EUR][1000 genomes]
rs62064156	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62064158	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62072049	0.83[EUR][1000 genomes]
rs6502619	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6502622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502625	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6502626	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6502627	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6502629	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs66531105	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67253360	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207043	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7207395	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7208190	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7213225	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7214002	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7214536	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7219320	0.82[EUR][1000 genomes]
rs7222480	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7224815	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7503334	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8065416	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8065563	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8065970	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8066982	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8068175	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs8068820	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8070128	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8070722	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8070748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8073001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8075965	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8076747	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8077338	0.81[EUR][1000 genomes]
rs8077530	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8078105	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8078138	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8078583	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8079321	0.91[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8080061	0.91[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8080823	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs950966	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9635697	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9635698	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9890341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9895750	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9904163	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9905284	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9907246	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9907287	0.91[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs9908017	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9908299	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9908832	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9911281	0.81[AMR][1000 genomes]
rs9912895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9913724	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914127	0.83[EUR][1000 genomes]
rs9915248	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11656840	SREBF1	cis	Whole Blood	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17810800-17838400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr17:17811400-17838400	Weak transcription	Primary T cells from cord blood	blood
3	chr17:17817800-17838200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr17:17823200-17838000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr17:17823200-17838200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr17:17823400-17838200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr17:17824800-17838200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:17825000-17837600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr17:17826200-17837800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:17826200-17838400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr17:17826200-17838400	Weak transcription	Small Intestine	intestine
12	chr17:17826600-17838000	Weak transcription	Hela-S3	cervix
13	chr17:17827000-17838400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr17:17827200-17840400	Weak transcription	Colon Smooth Muscle	Colon
15	chr17:17828200-17861000	Weak transcription	Primary B cells from cord blood	blood
16	chr17:17828600-17858000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr17:17829200-17837400	Enhancers	Fetal Heart	heart
18	chr17:17830800-17838000	Weak transcription	Fetal Intestine Large	intestine
19	chr17:17830800-17838600	Weak transcription	A549	lung
20	chr17:17830800-17839000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr17:17830800-17840600	Weak transcription	Fetal Thymus	thymus
22	chr17:17831200-17838000	Weak transcription	Esophagus	oesophagus
23	chr17:17832000-17838200	Weak transcription	Pancreas	Pancrea
24	chr17:17832400-17839200	Weak transcription	Liver	Liver
25	chr17:17832400-17843600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr17:17832600-17838200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr17:17832600-17838400	Weak transcription	Adipose Nuclei	Adipose
28	chr17:17832800-17837600	Weak transcription	Placenta	Placenta
29	chr17:17832800-17838200	Weak transcription	Spleen	Spleen
30	chr17:17832800-17843600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr17:17833000-17843600	Weak transcription	Fetal Stomach	stomach
32	chr17:17833200-17838200	Weak transcription	Fetal Brain Male	brain
33	chr17:17833200-17839200	Weak transcription	Fetal Kidney	kidney
34	chr17:17833400-17837600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:17833400-17837600	Weak transcription	Brain Germinal Matrix	brain
36	chr17:17833400-17837600	Weak transcription	Fetal Brain Female	brain
37	chr17:17833400-17838200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:17833400-17838200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr17:17833400-17838400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr17:17833400-17839200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:17833400-17839200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr17:17833400-17840600	Weak transcription	Fetal Muscle Leg	muscle
43	chr17:17833600-17838000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr17:17833600-17838600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr17:17833600-17840600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr17:17833800-17837600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:17833800-17837600	Weak transcription	Lung	lung
48	chr17:17833800-17838000	Weak transcription	Ovary	ovary
49	chr17:17833800-17838000	Weak transcription	Right Ventricle	heart
50	chr17:17834000-17837600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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