Variant report

Variant	rs61188141
Chromosome Location	chr17:17776448-17776449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr17:17776309-17776558	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr17:17776348-17776575	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr17:17776325-17776635	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr17:17776305-17776628	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr17:17776403-17776548	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr17:17776340-17776540	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17719864..17722423-chr17:17774275..17776633,2	K562	blood:

Variant related genes	Relation type
TOM1L2	TF binding region
ENSG00000072310	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs16960767	1.00[AMR][1000 genomes]
rs16960818	1.00[AMR][1000 genomes]
rs56054716	1.00[AMR][1000 genomes]
rs56153053	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56160247	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56232485	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56928492	1.00[AMR][1000 genomes]
rs57082481	1.00[AMR][1000 genomes]
rs57277459	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57791826	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58219643	1.00[AMR][1000 genomes]
rs58376085	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58676524	1.00[AMR][1000 genomes]
rs58936409	1.00[AMR][1000 genomes]
rs61050785	1.00[AMR][1000 genomes]
rs61060916	1.00[AMR][1000 genomes]
rs61256737	1.00[AMR][1000 genomes]
rs7218054	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7218246	1.00[AMR][1000 genomes]
rs7218594	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7221934	1.00[AMR][1000 genomes]
rs7224621	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297834	1.00[AMR][1000 genomes]
rs73297855	1.00[AMR][1000 genomes]
rs73297868	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299861	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299873	1.00[AMR][1000 genomes]
rs73299892	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301827	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301859	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301894	1.00[AMR][1000 genomes]
rs73303812	1.00[AMR][1000 genomes]
rs73303813	1.00[AMR][1000 genomes]
rs73303833	1.00[AMR][1000 genomes]
rs73303854	1.00[AMR][1000 genomes]
rs73303856	1.00[AMR][1000 genomes]
rs73303857	1.00[AMR][1000 genomes]
rs73305952	1.00[AMR][1000 genomes]
rs73979211	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979217	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979243	1.00[AMR][1000 genomes]
rs73981076	1.00[AMR][1000 genomes]
rs8066528	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8066865	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8078368	1.00[AMR][1000 genomes]
rs8078811	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	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
5	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	77 gene(s)	inside rSNPs	diseases
11	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
12	nsv907758	chr17:17619859-17782404	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
13	nsv907759	chr17:17619859-17802478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
14	nsv1059949	chr17:17632590-17803194	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
15	nsv543244	chr17:17632590-17803194	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
16	nsv907760	chr17:17649423-17782404	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
17	nsv907761	chr17:17649423-17802478	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer 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 miRNA target site	74 gene(s)	inside rSNPs	diseases
18	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
19	nsv907762	chr17:17668071-17802478	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
20	nsv907765	chr17:17682484-17802478	Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
21	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
22	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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17756800-17789600	Weak transcription	Small Intestine	intestine
2	chr17:17758800-17780200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:17764000-17777800	Weak transcription	Hela-S3	cervix
4	chr17:17764200-17803000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr17:17764400-17799600	Weak transcription	A549	lung
6	chr17:17767400-17779600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:17767600-17782000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr17:17767600-17782000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr17:17767600-17807400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:17768400-17781400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr17:17768400-17792200	Weak transcription	GM12878-XiMat	blood
12	chr17:17769200-17789400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr17:17769200-17804600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr17:17769400-17777000	Strong transcription	Esophagus	oesophagus
15	chr17:17769400-17792400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr17:17769600-17795200	Strong transcription	Primary T cells from cord blood	blood
17	chr17:17770000-17779800	Weak transcription	Stomach Mucosa	stomach
18	chr17:17771200-17778600	Weak transcription	Pancreas	Pancrea
19	chr17:17771200-17779400	Weak transcription	Primary B cells from cord blood	blood
20	chr17:17771800-17779000	Weak transcription	NH-A	brain
21	chr17:17772000-17779800	Weak transcription	Aorta	Aorta
22	chr17:17772000-17780000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr17:17772000-17780000	Weak transcription	Colonic Mucosa	Colon
24	chr17:17772200-17776600	Weak transcription	Right Ventricle	heart
25	chr17:17772200-17778000	Weak transcription	Fetal Heart	heart
26	chr17:17772200-17783600	Weak transcription	HepG2	liver
27	chr17:17772600-17781400	Weak transcription	Dnd41	blood
28	chr17:17772800-17777000	Weak transcription	Liver	Liver
29	chr17:17772800-17779800	Weak transcription	Ovary	ovary
30	chr17:17773000-17778400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:17773000-17779000	Weak transcription	Adipose Nuclei	Adipose
32	chr17:17773000-17779400	Weak transcription	Lung	lung
33	chr17:17773200-17776800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr17:17773200-17778600	Weak transcription	Fetal Kidney	kidney
35	chr17:17773200-17779600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr17:17773400-17776800	Weak transcription	Colon Smooth Muscle	Colon
37	chr17:17773400-17779000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr17:17773600-17777400	Strong transcription	Fetal Intestine Small	intestine
39	chr17:17773600-17779800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr17:17773800-17778800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr17:17773800-17778800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr17:17773800-17780600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr17:17774000-17778000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr17:17774000-17778400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:17774000-17778600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr17:17774000-17778600	Weak transcription	Fetal Brain Male	brain
47	chr17:17774000-17780000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:17774200-17776600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr17:17774200-17778000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr17:17774200-17778000	Weak transcription	Rectal Smooth Muscle	rectum

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