Variant report

Variant	rs60698184
Chromosome Location	chr11:17101861-17101862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:17093738-17102258	K562	blood:	n/a	n/a
2	POLR2A	chr11:17101340-17102176	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17101515..17104437-chr11:17228294..17230194,2	K562	blood:
2	chr11:17099951..17102029-chr11:17121087..17123839,2	MCF-7	breast:
3	chr11:17099157..17100919-chr11:17101285..17103646,3	MCF-7	breast:
4	chr11:17097208..17101887-chr11:17227768..17230798,9	K562	blood:
5	chr11:17097048..17102595-chr11:17228016..17231208,7	MCF-7	breast:
6	chr11:17008798..17010671-chr11:17099542..17102207,2	MCF-7	breast:
7	chr11:17101306..17104344-chr11:17107893..17110404,3	MCF-7	breast:
8	chr11:17101543..17103422-chr11:17105398..17108951,3	K562	blood:

No data

Variant related genes	Relation type
RPS13	TF binding region
SNORD14B	TF binding region
ENSG00000011405	Chromatin interaction
ENSG00000070081	Chromatin interaction
ENSG00000110700	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11024180	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11600230	1.00[ASN][1000 genomes]
rs11603765	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605718	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826970	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12419179	1.00[ASN][1000 genomes]
rs1471980	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16924899	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933823	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933827	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933873	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967077	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974527	1.00[ASN][1000 genomes]
rs2040859	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28845191	1.00[ASN][1000 genomes]
rs35493302	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57726107	1.00[ASN][1000 genomes]
rs59545597	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879689	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61879695	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879701	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer 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 target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17100000-17110800	Weak transcription	Stomach Mucosa	stomach
2	chr11:17100000-17111200	Weak transcription	Aorta	Aorta
3	chr11:17100000-17112800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:17100000-17112800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:17100200-17108000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:17100200-17109000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:17100200-17109400	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:17100200-17109800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:17100200-17109800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:17100200-17109800	Weak transcription	Left Ventricle	heart
11	chr11:17100200-17110000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:17100200-17110000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:17100200-17110000	Weak transcription	Ovary	ovary
14	chr11:17100200-17110200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:17100200-17110200	Weak transcription	Fetal Kidney	kidney
16	chr11:17100200-17110200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:17100200-17110200	Weak transcription	HSMMtube	muscle
18	chr11:17100200-17110600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:17100200-17110600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:17100200-17110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:17100200-17110800	Weak transcription	Fetal Lung	lung
22	chr11:17100200-17111200	Weak transcription	Fetal Stomach	stomach
23	chr11:17100200-17112200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:17100200-17112400	Weak transcription	Psoas Muscle	Psoas
25	chr11:17100200-17112600	Weak transcription	NHLF	lung
26	chr11:17100200-17113200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr11:17100200-17115000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:17100400-17106600	Weak transcription	NH-A	brain
29	chr11:17100400-17106800	Weak transcription	Fetal Intestine Small	intestine
30	chr11:17100400-17107000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:17100400-17108200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:17100400-17108200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:17100400-17108400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:17100400-17108600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:17100400-17108800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:17100400-17109000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:17100400-17109000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:17100400-17109000	Weak transcription	Brain Anterior Caudate	brain
39	chr11:17100400-17109000	Weak transcription	NHDF-Ad	bronchial
40	chr11:17100400-17109200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:17100400-17110000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:17100400-17110000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr11:17100400-17110200	Weak transcription	Primary T cells from cord blood	blood
44	chr11:17100400-17110200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:17100400-17110200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:17100400-17110200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:17100400-17110200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:17100400-17110200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:17100400-17110200	Weak transcription	Brain Angular Gyrus	brain
50	chr11:17100400-17110200	Weak transcription	Brain Hippocampus Middle	brain

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