Variant report

Variant	rs35232737
Chromosome Location	chr19:18668639-18668640
allele	C/G
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	MAX	chr19:18668313-18669077	GM12878	blood:	n/a	chr19:18668635-18668644
2	GTF2F1	chr19:18668335-18668718	K562	blood:	n/a	n/a
3	POLR2A	chr19:18668274-18669025	ECC-1	luminal epithelium:	n/a	n/a
4	KAP1	chr19:18668255-18668701	U2OS	brain:	n/a	n/a
5	TCF7L2	chr19:18668293-18668875	HCT-116	colon:	n/a	n/a
6	TAF1	chr19:18668267-18668957	ECC-1	luminal epithelium:	n/a	n/a
7	SIN3AK20	chr19:18668084-18669265	MCF-7	breast:	n/a	n/a
8	MYBL2	chr19:18668069-18668726	HepG2	liver:	n/a	n/a
9	RELA	chr19:18668262-18668947	GM15510	blood:	n/a	n/a
10	MAZ	chr19:18668387-18668810	HepG2	liver:	n/a	chr19:18668635-18668644
11	ELK1	chr19:18668243-18668795	GM12878	blood:	n/a	n/a
12	YY1	chr19:18667933-18668978	GM12892	blood:	n/a	chr19:18668674-18668688 chr19:18668762-18668773 chr19:18668779-18668788
13	POLR2A	chr19:18668214-18669129	PANC-1	pancreas:	n/a	n/a
14	GABPA	chr19:18668184-18668957	SK-N-SH	brain:	n/a	chr19:18668506-18668517
15	CREB1	chr19:18668310-18668854	ECC-1	luminal epithelium:	n/a	n/a
16	TBP	chr19:18668230-18668840	GM12878	blood:	n/a	n/a
17	BHLHE40	chr19:18668309-18668750	HepG2	liver:	n/a	n/a
18	STAT3	chr19:18668537-18668732	MCF10A-Er-Src	breast:	n/a	chr19:18668682-18668703
19	SMC3	chr19:18668288-18669017	Hela-S3	cervix:	n/a	chr19:18668906-18668916
20	POLR2A	chr19:18668215-18669018	GM12892	blood:	n/a	n/a
21	POLR2A	chr19:18668270-18668991	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr19:18668262-18669074	GM12878	blood:	n/a	n/a
23	MAX	chr19:18668408-18668852	K562	blood:	n/a	chr19:18668635-18668644
24	POLR2A	chr19:18668203-18669094	HL-60	blood:	n/a	n/a
25	POLR2A	chr19:18668087-18669782	GM12891	blood:	n/a	n/a
26	UBTF	chr19:18668578-18668833	K562	blood:	n/a	n/a
27	TBL1XR1	chr19:18668313-18668685	K562	blood:	n/a	n/a
28	ELF1	chr19:18668255-18668964	SK-N-SH	brain:	n/a	chr19:18668689-18668700 chr19:18668689-18668700 chr19:18668691-18668700 chr19:18668690-18668699
29	E2F4	chr19:18668384-18668833	MCF10A-Er-Src	breast:	n/a	chr19:18668530-18668539 chr19:18668507-18668516 chr19:18668674-18668683
30	MTA3	chr19:18668078-18669858	GM12878	blood:	n/a	n/a
31	TAF1	chr19:18668175-18668955	GM12878	blood:	n/a	n/a
32	MAX	chr19:18668285-18668915	A549	lung:	n/a	chr19:18668635-18668644
33	POLR2A	chr19:18667793-18670191	GM12892	blood:	n/a	n/a
34	KAP1	chr19:18668295-18668639	HEK293	kidney:	n/a	n/a
35	E2F6	chr19:18668480-18668813	K562	blood:	n/a	chr19:18668530-18668539 chr19:18668507-18668516 chr19:18668674-18668683
36	POU2F2	chr19:18668616-18668797	GM12878	blood:	n/a	n/a
37	ARID3A	chr19:18668291-18668731	HepG2	liver:	n/a	n/a
38	POLR2A	chr19:18668304-18668906	K562	blood:	n/a	n/a
39	YY1	chr19:18668258-18668999	GM12878	blood:	n/a	chr19:18668674-18668688 chr19:18668762-18668773 chr19:18668779-18668788
40	RCOR1	chr19:18668223-18669062	GM12878	blood:	n/a	n/a
41	MYC	chr19:18668436-18668856	K562	blood:	n/a	chr19:18668635-18668644
42	GABPA	chr19:18668255-18668863	MCF-7	breast:	n/a	chr19:18668506-18668517
43	TBL1XR1	chr19:18668273-18668814	K562	blood:	n/a	n/a
44	USF1	chr19:18668389-18668752	A549	lung:	n/a	n/a
45	TCF3	chr19:18668598-18668852	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:18668321-18668910	A549	lung:	n/a	n/a
47	ELF1	chr19:18668259-18668934	HepG2	liver:	n/a	chr19:18668689-18668700 chr19:18668689-18668700 chr19:18668691-18668700 chr19:18668690-18668699
48	MAX	chr19:18668280-18669047	ECC-1	luminal epithelium:	n/a	chr19:18668635-18668644
49	CHD2	chr19:18668278-18668815	GM12878	blood:	n/a	n/a
50	RUNX3	chr19:18668210-18668935	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18652388..18654838-chr19:18668474..18670630,2	K562	blood:
2	chr19:18631459..18633367-chr19:18667345..18670376,4	K562	blood:
3	chr19:18546792..18548978-chr19:18667741..18669982,2	K562	blood:
4	chr19:18667076..18669031-chr19:18699935..18702117,2	K562	blood:
5	chr19:18630485..18634839-chr19:18666846..18671916,7	MCF-7	breast:
6	chr19:18652388..18655450-chr19:18667016..18670630,4	K562	blood:
7	chr19:18666812..18670172-chr19:18680715..18684041,6	MCF-7	breast:
8	chr19:18653032..18656930-chr19:18667045..18670995,8	MCF-7	breast:
9	chr19:18668542..18669248-chr2:36824810..36825370,2	Hela-S3	cervix:
10	chr19:18668513..18669109-chr6:24666457..24667416,2	Hela-S3	cervix:
11	chr19:18630548..18633267-chr19:18667345..18670044,3	K562	blood:
12	chr19:18667424..18670168-chr19:18699281..18701481,3	MCF-7	breast:
13	chr19:18667097..18671007-chr19:18677068..18684435,17	K562	blood:
14	chr19:18649378..18653671-chr19:18667425..18670328,5	MCF-7	breast:
15	chr19:18392874..18395450-chr19:18668198..18669959,2	K562	blood:
16	chr10:70091055..70091952-chr19:18668414..18669066,2	Hela-S3	cervix:
17	chr19:18667882..18668653-chr6:86388042..86388763,2	HCT-116	colon:
18	chr19:18667740..18670829-chr19:18672165..18676171,4	K562	blood:
19	chr15:59949095..59949897-chr19:18668526..18669110,2	Hela-S3	cervix:
20	chr19:18666965..18674770-chr19:18676405..18685095,25	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FKBP8-1	chr19:18668585-18670453	ENSG00000268030.1

Variant related genes	Relation type
KXD1	TF binding region
ENSG00000268030	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000105701	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000111802	Chromatin interaction
ENSG00000140307	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000268983	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000112304	Chromatin interaction
ENSG00000203875	Chromatin interaction
ENSG00000171055	Chromatin interaction
ENSG00000096746	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10406229	0.89[EUR][1000 genomes]
rs10407294	0.89[EUR][1000 genomes]
rs11086117	0.89[EUR][1000 genomes]
rs11879540	0.89[EUR][1000 genomes]
rs11880744	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11882302	0.89[EUR][1000 genomes]
rs11883283	0.89[EUR][1000 genomes]
rs1859948	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41292091	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41293581	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7252850	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111568	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers 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	71 gene(s)	inside rSNPs	diseases
5	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1055794	chr19:18611545-18676933	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	nsv911283	chr19:18626732-18689830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv911284	chr19:18643036-18684216	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
12	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 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	chr19:18667600-18669600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:18667800-18669200	Active TSS	Hela-S3	cervix
3	chr19:18667800-18669400	Active TSS	HSMM	muscle
4	chr19:18668000-18668800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr19:18668000-18668800	Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr19:18668000-18668800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:18668000-18669000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:18668000-18669000	Active TSS	Brain Angular Gyrus	brain
9	chr19:18668000-18669000	Active TSS	Brain Cingulate Gyrus	brain
10	chr19:18668000-18669000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr19:18668000-18669000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:18668000-18669200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:18668000-18669200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:18668000-18669200	Active TSS	Duodenum Mucosa	Duodenum
15	chr19:18668000-18669200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr19:18668000-18669200	Active TSS	Rectal Smooth Muscle	rectum
17	chr19:18668000-18669400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:18668000-18669600	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr19:18668000-18669800	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr19:18668200-18668800	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr19:18668200-18668800	Active TSS	Primary B cells from cord blood	blood
22	chr19:18668200-18668800	Active TSS	Primary hematopoietic stem cells	blood
23	chr19:18668200-18668800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:18668200-18668800	Active TSS	Adipose Nuclei	Adipose
25	chr19:18668200-18668800	Active TSS	Colonic Mucosa	Colon
26	chr19:18668200-18668800	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr19:18668200-18668800	Active TSS	HUVEC	blood vessel
28	chr19:18668200-18669000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:18668200-18669000	Active TSS	Primary T cells from cord blood	blood
30	chr19:18668200-18669000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr19:18668200-18669000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr19:18668200-18669000	Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr19:18668200-18669000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr19:18668200-18669000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:18668200-18669000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:18668200-18669000	Active TSS	Brain Germinal Matrix	brain
37	chr19:18668200-18669000	Active TSS	Fetal Lung	lung
38	chr19:18668200-18669000	Active TSS	HMEC	breast
39	chr19:18668200-18669000	Active TSS	Monocytes-CD14+_RO01746	blood
40	chr19:18668200-18669200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr19:18668200-18669200	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr19:18668200-18669200	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr19:18668200-18669200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:18668200-18669200	Active TSS	Liver	Liver
45	chr19:18668200-18669200	Active TSS	Brain Anterior Caudate	brain
46	chr19:18668200-18669200	Active TSS	Brain Substantia Nigra	brain
47	chr19:18668200-18669200	Active TSS	Colon Smooth Muscle	Colon
48	chr19:18668200-18669200	Active TSS	Fetal Intestine Small	intestine
49	chr19:18668200-18669200	Active TSS	Fetal Kidney	kidney
50	chr19:18668200-18669200	Active TSS	Right Ventricle	heart

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