Variant report

Variant	rs17107174
Chromosome Location	chr14:70129720-70129721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:70110747..70113182-chr14:70129071..70131111,2	MCF-7	breast:
2	chr14:70129166..70132900-chr14:70155782..70158446,3	K562	blood:
3	chr14:70127448..70130324-chr14:70160379..70163129,3	K562	blood:
4	chr14:70127448..70130324-chr14:70160379..70163129,2	K562	blood:
5	chr14:70127632..70129868-chr14:70236583..70239484,2	MCF-7	breast:
6	chr14:70128380..70130594-chr14:70135928..70138718,3	MCF-7	breast:
7	chr14:70129521..70131459-chr14:70177879..70180104,2	MCF-7	breast:
8	chr14:70126205..70128384-chr14:70129571..70131836,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10144825	0.91[EUR][1000 genomes]
rs17107137	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2184598	0.91[EUR][1000 genomes]
rs3784148	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784151	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3809396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60897990	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70116600-70130400	Weak transcription	Brain Germinal Matrix	brain
2	chr14:70123200-70143800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:70123800-70137600	Weak transcription	Dnd41	blood
4	chr14:70124600-70129800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:70124600-70130400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:70125200-70131400	Genic enhancers	GM12878-XiMat	blood
7	chr14:70125600-70132600	Weak transcription	HSMMtube	muscle
8	chr14:70125800-70130000	Weak transcription	Colonic Mucosa	Colon
9	chr14:70125800-70131600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:70125800-70132200	Enhancers	Stomach Mucosa	stomach
11	chr14:70125800-70133400	Weak transcription	HSMM	muscle
12	chr14:70125800-70133600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:70126000-70130600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:70126200-70129800	Weak transcription	NH-A	brain
15	chr14:70127200-70130200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr14:70127200-70131600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
17	chr14:70127200-70133200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:70127200-70139200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:70127400-70130600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr14:70127400-70133400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:70127400-70133800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:70127400-70134200	Enhancers	Colon Smooth Muscle	Colon
23	chr14:70127400-70134200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr14:70127400-70137200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:70127600-70130000	Weak transcription	Fetal Brain Female	brain
26	chr14:70127600-70130200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr14:70127600-70130600	Enhancers	Rectal Smooth Muscle	rectum
28	chr14:70127600-70134800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr14:70127600-70135000	Enhancers	Adipose Nuclei	Adipose
30	chr14:70127600-70135000	Enhancers	Psoas Muscle	Psoas
31	chr14:70127800-70130600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr14:70127800-70130800	Enhancers	Stomach Smooth Muscle	stomach
33	chr14:70127800-70133000	Enhancers	HepG2	liver
34	chr14:70127800-70133600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:70127800-70134000	Enhancers	Fetal Intestine Large	intestine
36	chr14:70128000-70130000	Weak transcription	Placenta	Placenta
37	chr14:70128000-70130000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:70128000-70130200	Weak transcription	Fetal Thymus	thymus
39	chr14:70128000-70130400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:70128000-70130400	Weak transcription	Spleen	Spleen
41	chr14:70128000-70132600	Enhancers	Right Ventricle	heart
42	chr14:70128000-70133000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:70128200-70130600	Enhancers	Fetal Lung	lung
44	chr14:70128200-70133600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:70128200-70140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:70128400-70129800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr14:70128400-70130000	Weak transcription	Gastric	stomach
48	chr14:70128400-70130200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr14:70128400-70130200	Weak transcription	Right Atrium	heart
50	chr14:70128400-70130200	Weak transcription	Thymus	Thymus

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