Variant report

Variant	rs3735368
Chromosome Location	chr7:105141008-105141009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:105139837..105141467-chr7:105172365..105173927,2	K562	blood:
2	chr7:105140985..105143756-chr7:105161298..105163196,2	K562	blood:
3	chr7:105139514..105141337-chr7:105172365..105174838,2	K562	blood:
4	chr7:105139662..105141341-chr7:105152826..105155555,3	K562	blood:
5	chr7:105134519..105138273-chr7:105140684..105142940,4	K562	blood:
6	chr7:105139311..105141593-chr7:105161601..105163492,2	K562	blood:

Variant related genes	Relation type
ENSG00000091127	Chromatin interaction
ENSG00000135249	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12538052	0.81[CHB][hapmap];0.95[CHD][hapmap]
rs4373450	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4585682	0.81[CHB][hapmap];0.95[CHD][hapmap]
rs55650695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62486981	0.81[ASN][1000 genomes]
rs62486983	0.81[ASN][1000 genomes]
rs62486990	0.81[ASN][1000 genomes]
rs62486991	0.81[ASN][1000 genomes]
rs62486992	0.81[ASN][1000 genomes]
rs62486993	0.81[ASN][1000 genomes]
rs6958132	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6958252	0.81[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[ASN][1000 genomes]
rs6960696	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964788	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965760	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6971072	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs711435	0.90[CHB][hapmap];0.95[CHD][hapmap];0.81[ASN][1000 genomes]
rs73190117	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190120	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790660	0.81[ASN][1000 genomes]
rs7790913	0.81[ASN][1000 genomes]
rs7798871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818471	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs818479	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised 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	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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 target site	15 gene(s)	inside rSNPs	diseases
8	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS 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	38 gene(s)	inside rSNPs	diseases
9	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv888929	chr7:105012975-105163091	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv888930	chr7:105012975-105170476	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv888931	chr7:105012975-105173974	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers 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 target site	33 gene(s)	inside rSNPs	diseases
17	nsv1018975	chr7:105018374-105153618	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
18	nsv539050	chr7:105018374-105153618	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
19	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv464668	chr7:105088693-105208492	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
21	nsv608069	chr7:105088693-105208492	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS 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	30 gene(s)	inside rSNPs	diseases
22	nsv888935	chr7:105110990-105193051	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
23	nsv888936	chr7:105119308-105193051	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
24	esv1793037	chr7:105137305-105167132	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3735368	LOC339524	trans	parietal	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105080000-105161200	Weak transcription	Pancreas	Pancrea
2	chr7:105088200-105142600	Weak transcription	Esophagus	oesophagus
3	chr7:105088200-105152800	Weak transcription	Gastric	stomach
4	chr7:105089200-105142600	Weak transcription	Fetal Thymus	thymus
5	chr7:105089600-105145200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:105089600-105145800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:105093600-105153000	Weak transcription	Small Intestine	intestine
8	chr7:105095200-105142600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:105096400-105145600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:105098200-105151200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:105099800-105153000	Weak transcription	Psoas Muscle	Psoas
12	chr7:105100000-105141800	Weak transcription	Placenta	Placenta
13	chr7:105122800-105141200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:105123200-105151200	Weak transcription	Brain Germinal Matrix	brain
15	chr7:105124400-105161800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:105127200-105148400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:105127400-105142600	Weak transcription	Lung	lung
18	chr7:105128600-105142600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:105128600-105148400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:105128600-105161200	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:105128600-105161600	Weak transcription	Brain Substantia Nigra	brain
22	chr7:105128800-105142400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr7:105128800-105143600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:105128800-105144800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:105128800-105148200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:105128800-105161200	Weak transcription	Brain Angular Gyrus	brain
27	chr7:105129200-105153400	Weak transcription	Fetal Lung	lung
28	chr7:105129600-105149400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:105131200-105153000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:105134000-105142800	Weak transcription	Thymus	Thymus
31	chr7:105134000-105149200	Strong transcription	K562	blood
32	chr7:105134400-105149200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:105134400-105161200	Weak transcription	Brain Anterior Caudate	brain
34	chr7:105134800-105142600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:105134800-105149400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:105134800-105161600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:105135000-105147800	Weak transcription	Stomach Mucosa	stomach
38	chr7:105135200-105142600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:105135200-105154000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:105136200-105142600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:105137000-105149000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:105137000-105149200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:105137000-105149200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:105137400-105149200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr7:105137400-105149400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:105137800-105145000	Weak transcription	Fetal Kidney	kidney
47	chr7:105137800-105149000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:105137800-105161200	Weak transcription	NHDF-Ad	bronchial
49	chr7:105137800-105161200	Weak transcription	NHLF	lung
50	chr7:105138000-105147200	Weak transcription	Primary monocytes fromperipheralblood	blood

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