Variant report

Variant	rs28613490
Chromosome Location	chr14:35335433-35335434
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	POLR2A	chr14:35335180-35335443	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35330584..35332692-chr14:35335124..35338099,2	MCF-7	breast:

Variant related genes	Relation type
BAZ1A	TF binding region
ENSG00000198604	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10131554	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143208	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146953	1.00[AMR][1000 genomes]
rs10147300	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147386	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147966	1.00[AMR][1000 genomes]
rs10148768	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149825	0.83[AMR][1000 genomes]
rs10151586	1.00[AMR][1000 genomes]
rs10162531	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489895	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28571108	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28612125	1.00[AMR][1000 genomes]
rs28701139	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28735013	0.83[AFR][1000 genomes]
rs9806067	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS 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	54 gene(s)	inside rSNPs	diseases
6	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
8	nsv85205	chr14:35329756-35335693	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv976829	chr14:35332947-35341310	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35269400-35341600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:35276200-35342400	Weak transcription	Pancreas	Pancrea
3	chr14:35312200-35336200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:35312800-35336600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:35312800-35341400	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:35312800-35341600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:35312800-35341600	Weak transcription	Psoas Muscle	Psoas
8	chr14:35312800-35342200	Weak transcription	Small Intestine	intestine
9	chr14:35312800-35342400	Weak transcription	Left Ventricle	heart
10	chr14:35313600-35341600	Weak transcription	Brain Germinal Matrix	brain
11	chr14:35318400-35342200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:35321800-35342400	Weak transcription	Gastric	stomach
13	chr14:35322600-35341400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:35322800-35341200	Weak transcription	HSMMtube	muscle
15	chr14:35322800-35342200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr14:35323200-35341800	Weak transcription	NHLF	lung
17	chr14:35323800-35342600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:35324600-35341600	Weak transcription	Fetal Lung	lung
19	chr14:35324600-35342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:35324800-35342200	Weak transcription	Ovary	ovary
21	chr14:35327000-35341600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:35327000-35342400	Weak transcription	Esophagus	oesophagus
23	chr14:35327200-35342400	Weak transcription	Spleen	Spleen
24	chr14:35327400-35338600	Weak transcription	K562	blood
25	chr14:35327600-35336400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:35327600-35336600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:35327600-35337200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr14:35327600-35341200	Weak transcription	Thymus	Thymus
29	chr14:35327600-35341400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:35327800-35341600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:35328400-35336600	Weak transcription	NHEK	skin
32	chr14:35328400-35337400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr14:35329600-35336600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:35329600-35337600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:35329600-35338200	Weak transcription	Fetal Thymus	thymus
36	chr14:35329600-35342200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr14:35330000-35341400	Weak transcription	Fetal Intestine Large	intestine
38	chr14:35330000-35341600	Weak transcription	Fetal Intestine Small	intestine
39	chr14:35330000-35341600	Weak transcription	Fetal Stomach	stomach
40	chr14:35330200-35337200	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:35331200-35336400	Weak transcription	Primary T cells from cord blood	blood
42	chr14:35331200-35340400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr14:35331200-35341200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:35331200-35341400	Weak transcription	NHDF-Ad	bronchial
45	chr14:35331200-35341600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:35331200-35341600	Weak transcription	Placenta	Placenta
47	chr14:35331200-35341800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:35331200-35341800	Weak transcription	Osteobl	bone
49	chr14:35331200-35342000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:35331200-35342200	Weak transcription	Fetal Brain Female	brain

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