Variant report

Variant	rs17108948
Chromosome Location	chr14:39646223-39646224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:39646064-39646843	H1-hESC	embryonic stem cell:	n/a	n/a
2	HEY1	chr14:39646138-39646602	K562	blood:	n/a	n/a
3	POLR2A	chr14:39646038-39646893	GM12892	blood:	n/a	n/a
4	POLR2A	chr14:39642960-39651251	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:39646086-39646730	GM12891	blood:	n/a	n/a
6	POLR2A	chr14:39645866-39647007	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:39646200-39646853	MCF-7	breast:	n/a	n/a
8	WRNIP1	chr14:39646188-39646581	GM12878	blood:	n/a	n/a
9	HEY1	chr14:39646033-39648837	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:39646201-39646309	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr14:39646101-39646888	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr14:39646099-39646730	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr14:39646091-39647035	A549	lung:	n/a	n/a
14	HEY1	chr14:39645676-39647521	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:39643051-39648902	HepG2	liver:	n/a	n/a
16	POLR2A	chr14:39646201-39646709	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr14:39646105-39646978	GM12892	blood:	n/a	n/a
18	POLR2A	chr14:39646196-39646249	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr14:39646058-39646706	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr14:39645641-39647605	HepG2	liver:	n/a	n/a
21	POLR2A	chr14:39646205-39646624	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:39645593-39647104	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr14:39643261-39648811	K562	blood:	n/a	n/a
24	POLR2A	chr14:39646062-39646623	HepG2	liver:	n/a	n/a
25	POLR2A	chr14:39645826-39647158	HepG2	liver:	n/a	n/a
26	MBD4	chr14:39643120-39646667	HepG2	liver:	n/a	n/a
27	POLR2A	chr14:39646183-39646788	GM12892	blood:	n/a	n/a
28	POLR2A	chr14:39645594-39647030	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39643730..39648156-chr14:39734640..39738499,10	MCF-7	breast:
2	chr14:39642546..39647225-chr14:39733415..39737853,13	MCF-7	breast:
3	chr14:39643409..39646477-chr14:39682252..39685201,4	MCF-7	breast:
4	chr14:39644686..39646338-chr14:39899658..39902040,2	K562	blood:

No data

Variant related genes	Relation type
PNN	TF binding region
ENSG00000259083	TF binding region
ENSG00000165355	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000270503	Chromatin interaction
ENSG00000150527	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1002193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10129762	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10131369	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10134166	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10134656	0.82[AMR][1000 genomes]
rs10135561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136637	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140763	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10141081	0.82[AMR][1000 genomes]
rs10141924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142117	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10142350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145417	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10146176	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10148712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040680	0.83[AMR][1000 genomes]
rs1050136	1.00[ASN][1000 genomes]
rs11622731	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11622968	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623907	0.82[AMR][1000 genomes]
rs11623945	0.82[AMR][1000 genomes]
rs11624584	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11626002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627264	0.82[AMR][1000 genomes]
rs11628564	0.82[AMR][1000 genomes]
rs11628784	0.84[ASN][1000 genomes]
rs11848067	0.82[AMR][1000 genomes]
rs11849209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11851680	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587208	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379129	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17092044	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17092050	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17108696	0.82[AMR][1000 genomes]
rs2144528	0.82[AMR][1000 genomes]
rs2273592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28414518	0.82[AMR][1000 genomes]
rs28437577	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28470602	0.82[AMR][1000 genomes]
rs28501673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28583114	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28666016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28701960	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28821293	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs45622837	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55737943	0.82[AMR][1000 genomes]
rs56064304	0.82[AMR][1000 genomes]
rs56105133	0.82[AMR][1000 genomes]
rs57326310	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57482489	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57555422	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58601678	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59465524	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7144625	0.82[AMR][1000 genomes]
rs7155307	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74048710	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74048711	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs761805	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926970	0.82[AMR][1000 genomes]
rs993675	0.82[AMR][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking 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	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39643800-39646600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:39644800-39646400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:39644800-39646600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr14:39645000-39646400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
5	chr14:39645000-39646400	Transcr. at gene 5' and 3'	A549	lung
6	chr14:39645200-39646400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
7	chr14:39645200-39646400	Transcr. at gene 5' and 3'	NH-A	brain
8	chr14:39645200-39646600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
9	chr14:39645200-39646800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
10	chr14:39645200-39647000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
11	chr14:39645200-39647200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:39645400-39646400	Weak transcription	Gastric	stomach
13	chr14:39645400-39646400	Weak transcription	Small Intestine	intestine
14	chr14:39645400-39646400	Enhancers	Stomach Mucosa	stomach
15	chr14:39645400-39646600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:39645400-39647000	Transcr. at gene 5' and 3'	Hela-S3	cervix
17	chr14:39645400-39647600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
18	chr14:39645400-39648000	Weak transcription	Fetal Brain Male	brain
19	chr14:39645400-39649000	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr14:39645600-39646400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr14:39645600-39646400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:39645600-39646400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr14:39645600-39646400	Enhancers	Fetal Heart	heart
24	chr14:39645600-39646400	Genic enhancers	Fetal Thymus	thymus
25	chr14:39645600-39646600	Genic enhancers	Adipose Nuclei	Adipose
26	chr14:39645600-39646600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr14:39645600-39646600	Genic enhancers	Fetal Muscle Leg	muscle
28	chr14:39645600-39646600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
29	chr14:39645600-39647000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr14:39645600-39647000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:39645600-39647000	Transcr. at gene 5' and 3'	HepG2	liver
32	chr14:39645600-39655400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:39645800-39646400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:39645800-39646400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
35	chr14:39645800-39646400	Genic enhancers	Primary hematopoietic stem cells	blood
36	chr14:39645800-39646400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:39645800-39646400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:39645800-39646400	Genic enhancers	Brain Hippocampus Middle	brain
39	chr14:39645800-39646400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr14:39645800-39646400	Weak transcription	Psoas Muscle	Psoas
41	chr14:39645800-39646400	Weak transcription	Right Atrium	heart
42	chr14:39645800-39646600	Genic enhancers	Primary T cells from cord blood	blood
43	chr14:39645800-39646600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:39645800-39646600	Genic enhancers	Duodenum Mucosa	Duodenum
45	chr14:39645800-39646600	Genic enhancers	Fetal Stomach	stomach
46	chr14:39645800-39646600	Genic enhancers	Rectal Mucosa Donor 31	rectum
47	chr14:39645800-39646600	Genic enhancers	NHEK	skin
48	chr14:39645800-39646800	Genic enhancers	H1 Cell Line	embryonic stem cell
49	chr14:39645800-39646800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:39645800-39647000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood

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