Variant report

Variant	rs1799795
Chromosome Location	chr14:104174825-104174826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:104174685-104174889	MCF-7	breast:	n/a	n/a
2	POLR2A	chr14:104174765-104175139	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:104171138-104174879	K562	blood:	n/a	n/a
4	POLR2A	chr14:104173845-104174885	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:104173835-104174961	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:104172875-104175724	GM12892	blood:	n/a	n/a
7	POLR2A	chr14:104173945-104175562	GM12892	blood:	n/a	n/a
8	POLR2A	chr14:104174819-104174864	K562	blood:	n/a	n/a
9	POLR2A	chr14:104174336-104174873	GM12891	blood:	n/a	n/a
10	POLR2A	chr14:104173968-104174886	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr14:104174125-104175386	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:104171948-104174873	GM19193	blood:	n/a	n/a
13	POLR2A	chr14:104173917-104174922	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:104174656-104174867	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr14:104172907-104176890	U87	brain:	n/a	n/a
16	POLR2A	chr14:104171124-104176699	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr14:104173762-104174854	HL-60	blood:	n/a	n/a
18	POLR2A	chr14:104173936-104175626	A549	lung:	n/a	n/a
19	POLR2A	chr14:104172941-104176852	U87	brain:	n/a	n/a
20	POLR2A	chr14:104173425-104175717	HepG2	liver:	n/a	n/a
21	POLR2A	chr14:104173473-104174872	GM18951	blood:	n/a	n/a
22	POLR2A	chr14:104161532-104176510	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr14:104174247-104174866	GM12891	blood:	n/a	n/a
24	POLR2A	chr14:104158357-104176753	K562	blood:	n/a	n/a
25	POLR2A	chr14:104174333-104174831	HCT-116	colon:	n/a	n/a
26	POLR2A	chr14:104173947-104174861	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:104093558..104096899-chr14:104170639..104176222,7	MCF-7	breast:
2	chr14:104092924..104097008-chr14:104171636..104177946,5	K562	blood:
3	chr14:104151812..104156751-chr14:104171759..104176142,6	K562	blood:
4	chr14:104172426..104175375-chr14:104213214..104215800,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224997	TF binding region
ENSG00000126214	Chromatin interaction
ENSG00000088808	Chromatin interaction
ENSG00000270108	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11625613	1.00[YRI][hapmap]
rs12435668	1.00[YRI][hapmap]
rs3212061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3212068	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3212079	0.88[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57736032	0.88[AFR][1000 genomes]
rs58141830	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58227725	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60701960	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61349493	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7145372	0.85[YRI][hapmap]
rs729436	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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	nsv902315	chr14:104165927-104190527	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
25	esv3358491	chr14:104173249-104175747	Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
26	nsv902316	chr14:104173823-104195161	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 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	chr14:104119400-104175200	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:104120000-104177000	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr14:104133400-104177200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:104135600-104177600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:104152600-104178600	Weak transcription	Small Intestine	intestine
8	chr14:104158400-104178000	Strong transcription	Dnd41	blood
9	chr14:104158600-104176400	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr14:104159800-104176200	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:104161000-104176600	Genic enhancers	Spleen	Spleen
12	chr14:104161200-104180000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:104161200-104180400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:104162800-104177200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:104163400-104176800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr14:104163400-104177200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:104163600-104176200	Strong transcription	Osteobl	bone
18	chr14:104163600-104177200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:104163600-104177600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:104163800-104176200	Strong transcription	Fetal Brain Female	brain
21	chr14:104164000-104176000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:104164000-104176600	Strong transcription	Brain Germinal Matrix	brain
23	chr14:104164200-104175200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:104164200-104176800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:104164200-104178600	Weak transcription	Fetal Heart	heart
26	chr14:104164400-104177400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:104165200-104177000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:104165400-104177200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:104165400-104180400	Strong transcription	Thymus	Thymus
30	chr14:104165800-104175000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr14:104165800-104175200	Strong transcription	Colonic Mucosa	Colon
32	chr14:104165800-104176800	Strong transcription	Fetal Thymus	thymus
33	chr14:104166800-104175800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr14:104166800-104176000	Strong transcription	NHLF	lung
35	chr14:104167200-104179600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:104167400-104176400	Strong transcription	Fetal Intestine Large	intestine
37	chr14:104167600-104176200	Strong transcription	A549	lung
38	chr14:104167600-104176600	Strong transcription	Fetal Intestine Small	intestine
39	chr14:104167800-104178000	Weak transcription	Right Atrium	heart
40	chr14:104168400-104175200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr14:104168400-104175400	Strong transcription	HepG2	liver
42	chr14:104168400-104176600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:104168600-104175200	Strong transcription	Primary T cells from cord blood	blood
44	chr14:104168600-104176400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:104169000-104176200	Genic enhancers	Placenta	Placenta
46	chr14:104169000-104180200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:104169200-104176400	Genic enhancers	Esophagus	oesophagus
48	chr14:104169400-104175800	Genic enhancers	Right Ventricle	heart
49	chr14:104169400-104177800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:104169800-104176600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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