Variant report

Variant	rs3212118
Chromosome Location	chr14:104164634-104164635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

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	POLR2A	chr14:104162428-104167912	GM12892	blood:	n/a	n/a
3	POLR2A	chr14:104163629-104167827	GM12892	blood:	n/a	n/a
4	POLR2A	chr14:104163960-104166036	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:104163159-104166993	GM15510	blood:	n/a	n/a
6	POLR2A	chr14:104164504-104165052	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr14:104163785-104164766	ProgFib	skin:	n/a	n/a
8	POLR2A	chr14:104163444-104167238	K562	blood:	n/a	n/a
9	POLR2A	chr14:104163927-104164795	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr14:104163620-104167914	Hela-S3	cervix:	n/a	n/a
11	SIN3AK20	chr14:104164193-104164667	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr14:104162433-104167795	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr14:104163591-104166090	K562	blood:	n/a	n/a
14	POLR2A	chr14:104163817-104166083	GM18526	blood:	n/a	n/a
15	POLR2A	chr14:104163893-104166055	GM12878	blood:	n/a	n/a
16	POLR2A	chr14:104163557-104168043	K562	blood:	n/a	n/a
17	POLR2A	chr14:104164050-104165998	ECC-1	luminal epithelium:	n/a	n/a
18	BCL3	chr14:104162417-104164861	A549	lung:	n/a	chr14:104162570-104162579
19	POLR2A	chr14:104163958-104166014	A549	lung:	n/a	n/a
20	POLR2A	chr14:104164256-104164646	HCT-116	colon:	n/a	n/a
21	POLR2A	chr14:104164588-104164789	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr14:104163459-104166880	HepG2	liver:	n/a	n/a
23	POLR2A	chr14:104163390-104164662	GM12892	blood:	n/a	n/a
24	POLR2A	chr14:104163873-104167654	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:104164511-104165735	U87	brain:	n/a	n/a
26	POLR2A	chr14:104164568-104164775	A549	lung:	n/a	n/a
27	POLR2A	chr14:104163748-104165986	HEK293	kidney:	n/a	n/a
28	NFATC1	chr14:104163342-104165091	GM12878	blood:	n/a	chr14:104163627-104163641
29	POLR2A	chr14:104163442-104166908	GM12891	blood:	n/a	n/a
30	POLR2A	chr14:104163614-104166779	K562	blood:	n/a	n/a
31	POLR2A	chr14:104161885-104167797	K562	blood:	n/a	n/a
32	POLR2A	chr14:104163379-104165855	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr14:104162049-104167862	K562	blood:	n/a	n/a
34	POLR2A	chr14:104158412-104167854	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr14:104163610-104167839	GM19193	blood:	n/a	n/a
36	POLR2A	chr14:104163987-104165678	K562	blood:	n/a	n/a
37	POLR2A	chr14:104164050-104164643	U87	brain:	n/a	n/a
38	POLR2A	chr14:104163355-104167291	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr14:104163780-104167919	GM12892	blood:	n/a	n/a
40	POLR2A	chr14:104163545-104165779	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr14:104163700-104167829	GM18951	blood:	n/a	n/a
42	POLR2A	chr14:104164504-104164716	HCT-116	colon:	n/a	n/a
43	POLR2A	chr14:104163531-104166608	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr14:104163566-104164701	HepG2	liver:	n/a	n/a
45	POLR2A	chr14:104163810-104167414	GM12878	blood:	n/a	n/a
46	POLR2A	chr14:104161823-104167781	GM12878	blood:	n/a	n/a
47	POLR2A	chr14:104164182-104165160	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr14:104163722-104165572	HepG2	liver:	n/a	n/a
49	POLR2A	chr14:104163586-104165947	HL-60	blood:	n/a	n/a
50	POLR2A	chr14:104163650-104166855	GM19099	blood:	n/a	n/a

No data

(count:1 , 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:

No data

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10147588	0.98[AFR][1000 genomes]
rs13379384	1.00[AMR][1000 genomes]
rs59843945	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363043	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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
24	nsv902314	chr14:104163901-104170465	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 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	chr14:104119400-104175200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:104120000-104177000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:104124600-104169800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:104124600-104169800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:104133400-104177200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:104135600-104177600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:104146200-104174800	Weak transcription	K562	blood
11	chr14:104152600-104178600	Weak transcription	Small Intestine	intestine
12	chr14:104154400-104165200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr14:104157400-104167600	Genic enhancers	Placenta	Placenta
14	chr14:104158200-104169000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:104158200-104170200	Genic enhancers	Fetal Muscle Leg	muscle
16	chr14:104158400-104167800	Strong transcription	Primary T cells from cord blood	blood
17	chr14:104158400-104171200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:104158400-104178000	Strong transcription	Dnd41	blood
19	chr14:104158600-104176400	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr14:104158800-104165000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:104159800-104176200	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:104160200-104167000	Strong transcription	HMEC	breast
23	chr14:104161000-104167200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:104161000-104170600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr14:104161000-104176600	Genic enhancers	Spleen	Spleen
26	chr14:104161200-104164800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:104161200-104165400	Genic enhancers	Fetal Stomach	stomach
28	chr14:104161200-104165600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr14:104161200-104165800	Genic enhancers	Lung	lung
30	chr14:104161200-104166000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:104161200-104180000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:104161200-104180400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr14:104161400-104165600	Weak transcription	GM12878-XiMat	blood
34	chr14:104161800-104165800	Genic enhancers	Fetal Thymus	thymus
35	chr14:104161800-104166000	Enhancers	Primary B cells from cord blood	blood
36	chr14:104161800-104167800	Genic enhancers	Right Ventricle	heart
37	chr14:104162000-104165000	Enhancers	Ovary	ovary
38	chr14:104162000-104165400	Weak transcription	HepG2	liver
39	chr14:104162000-104165600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:104162000-104169600	Genic enhancers	Primary B cells from peripheral blood	blood
41	chr14:104162200-104165800	Genic enhancers	Rectal Mucosa Donor 29	rectum
42	chr14:104162400-104165200	Enhancers	Psoas Muscle	Psoas
43	chr14:104162400-104172400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:104162600-104165000	Enhancers	Stomach Mucosa	stomach
45	chr14:104162800-104177200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:104163000-104164800	Genic enhancers	Rectal Mucosa Donor 31	rectum
47	chr14:104163000-104165800	Genic enhancers	Gastric	stomach
48	chr14:104163000-104167200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr14:104163200-104165600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:104163200-104165800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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