Variant report

Variant	rs58909811
Chromosome Location	chr14:104162472-104162473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:104161808-104167956	GM12891	blood:	n/a	n/a
2	MXI1	chr14:104162181-104163505	IMR90	lung:	n/a	n/a
3	POLR2A	chr14:104162428-104167912	GM12892	blood:	n/a	n/a
4	POLR2A	chr14:104162395-104162781	GM12891	blood:	n/a	n/a
5	POLR2A	chr14:104162378-104162713	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:104162433-104167795	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr14:104162389-104162719	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr14:104162417-104164861	A549	lung:	n/a	chr14:104162570-104162579
9	POLR2A	chr14:104162429-104163430	GM12892	blood:	n/a	n/a
10	POLR2A	chr14:104161885-104167797	K562	blood:	n/a	n/a
11	POLR2A	chr14:104162049-104167862	K562	blood:	n/a	n/a
12	POLR2A	chr14:104158412-104167854	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr14:104161700-104162769	K562	blood:	n/a	n/a
14	POLR2A	chr14:104162430-104162671	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr14:104162398-104163369	GM12892	blood:	n/a	n/a
16	POLR2A	chr14:104162460-104163219	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr14:104162387-104162682	GM12878	blood:	n/a	n/a
18	POLR2A	chr14:104161835-104163223	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:104161823-104167781	GM12878	blood:	n/a	n/a
20	POLR2A	chr14:104162410-104162719	K562	blood:	n/a	n/a
21	POLR2A	chr14:104161532-104176510	SK-N-MC	brain:	n/a	n/a
22	MTA3	chr14:104162445-104165839	GM12878	blood:	n/a	n/a
23	POLR2A	chr14:104162403-104163242	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr14:104162451-104163141	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr14:104161706-104162771	HL-60	blood:	n/a	n/a
26	POLR2A	chr14:104161794-104162732	HL-60	blood:	n/a	n/a
27	POLR2A	chr14:104161868-104163296	GM12891	blood:	n/a	n/a
28	POLR2A	chr14:104162273-104167865	MCF-7	breast:	n/a	n/a
29	POLR2A	chr14:104162408-104163504	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr14:104162397-104162717	GM12878	blood:	n/a	n/a
31	POLR2A	chr14:104162423-104162712	ECC-1	luminal epithelium:	n/a	n/a
32	NFATC1	chr14:104162470-104163229	GM12878	blood:	n/a	n/a
33	POLR2A	chr14:104158357-104176753	K562	blood:	n/a	n/a
34	POLR2A	chr14:104161765-104167842	GM18505	blood:	n/a	n/a
35	POLR2A	chr14:104161807-104167839	A549	lung:	n/a	n/a
36	POLR2A	chr14:104162425-104162672	A549	lung:	n/a	n/a
37	HMGN3	chr14:104162428-104162685	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104093531..104096163-chr14:104161716..104165608,3	MCF-7	breast:
2	chr14:104157661..104159215-chr14:104160854..104162679,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XRCC3-2	chr14:104162221-104163460	NONHSAT040198

No data

Variant related genes	Relation type
ENSG00000269910	TF binding region
ENSG00000269958	TF binding region
KLC1	TF binding region
ENSG00000126214	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11848174	0.84[ASN][1000 genomes]
rs11849022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101760	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101763	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101767	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2024668	0.84[ASN][1000 genomes]
rs2274265	1.00[ASN][1000 genomes]
rs3212031	0.92[ASN][1000 genomes]
rs3212041	1.00[EUR][1000 genomes]
rs3212049	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3212052	1.00[EUR][1000 genomes]
rs3212056	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3212058	0.92[ASN][1000 genomes]
rs3212064	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3212066	1.00[EUR][1000 genomes]
rs3212071	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3212072	1.00[EUR][1000 genomes]
rs3212078	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3212086	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3212096	1.00[EUR][1000 genomes]
rs3212099	1.00[EUR][1000 genomes]
rs3212106	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3212112	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3212117	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3212121	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3212133	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34100926	0.92[ASN][1000 genomes]
rs35905888	0.84[ASN][1000 genomes]
rs3736911	1.00[ASN][1000 genomes]
rs3742362	1.00[ASN][1000 genomes]
rs3742368	0.84[ASN][1000 genomes]
rs3742460	0.92[ASN][1000 genomes]
rs3742461	0.92[ASN][1000 genomes]
rs3742464	1.00[ASN][1000 genomes]
rs3783405	1.00[EUR][1000 genomes]
rs3783406	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55650682	0.92[ASN][1000 genomes]
rs55958706	0.92[ASN][1000 genomes]
rs56726433	0.84[ASN][1000 genomes]
rs58899741	0.84[ASN][1000 genomes]
rs74085289	0.84[ASN][1000 genomes]
rs74086597	0.84[ASN][1000 genomes]
rs74088714	0.84[ASN][1000 genomes]
rs8009618	0.84[ASN][1000 genomes]
rs8020907	0.84[ASN][1000 genomes]
rs8021384	0.84[ASN][1000 genomes]
rs9282879	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription 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 target site	83 gene(s)	inside rSNPs	diseases
3	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv1041329	chr14:104097750-104196346	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv542202	chr14:104097750-104196346	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1048866	chr14:104100862-104195896	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
12	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
13	nsv1041347	chr14:104141217-104186372	Weak transcription Enhancers Strong transcription Active TSS Genic 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	36 gene(s)	inside rSNPs	diseases
14	nsv902309	chr14:104143385-104198251	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
15	nsv902310	chr14:104143385-104205811	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
16	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
17	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
18	nsv902311	chr14:104148339-104205811	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv902312	chr14:104155317-104211180	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers 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	33 gene(s)	inside rSNPs	diseases
20	esv1796914	chr14:104159882-104181369	Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	nsv527425	chr14:104162263-104198251	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
22	nsv470673	chr14:104162263-104219949	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
23	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104117800-104176000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr14:104118800-104175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:104119200-104173000	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:104119400-104164600	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr14:104119400-104175200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr14:104120000-104177000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:104124600-104169800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr14:104124600-104169800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr14:104133400-104177200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:104135600-104177600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:104139800-104164400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:104146200-104174800	Weak transcription	K562	blood
13	chr14:104149200-104164600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:104152600-104178600	Weak transcription	Small Intestine	intestine
15	chr14:104153800-104164000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:104154400-104165200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr14:104155200-104162600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:104157400-104167600	Genic enhancers	Placenta	Placenta
19	chr14:104157600-104164600	Strong transcription	Thymus	Thymus
20	chr14:104158000-104162800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:104158200-104162800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:104158200-104169000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:104158200-104170200	Genic enhancers	Fetal Muscle Leg	muscle
24	chr14:104158400-104167800	Strong transcription	Primary T cells from cord blood	blood
25	chr14:104158400-104171200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:104158400-104178000	Strong transcription	Dnd41	blood
27	chr14:104158600-104176400	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr14:104158800-104162800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:104158800-104165000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:104159000-104162800	Weak transcription	Fetal Kidney	kidney
31	chr14:104159400-104163800	Strong transcription	Pancreas	Pancrea
32	chr14:104159800-104176200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:104160000-104164600	Enhancers	Fetal Brain Male	brain
34	chr14:104160200-104164000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:104160200-104167000	Strong transcription	HMEC	breast
36	chr14:104160400-104163000	Strong transcription	NHEK	skin
37	chr14:104160400-104163800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:104160600-104163200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:104160800-104162600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:104160800-104163000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr14:104160800-104164000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
42	chr14:104161000-104167200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:104161000-104170600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr14:104161000-104176600	Genic enhancers	Spleen	Spleen
45	chr14:104161200-104162600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:104161200-104162600	Weak transcription	HUVEC	blood vessel
47	chr14:104161200-104163400	Enhancers	Brain Cingulate Gyrus	brain
48	chr14:104161200-104164000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:104161200-104164200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr14:104161200-104164400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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