Variant report

Variant	rs4248161
Chromosome Location	chr6:31542767-31542768
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFATC1	chr6:31542223-31543906	GM12878	blood:	n/a	n/a
2	ATF2	chr6:31542406-31545666	GM12878	blood:	n/a	n/a
3	RELA	chr6:31542357-31545050	GM15510	blood:	n/a	n/a
4	BCL11A	chr6:31542550-31542911	GM12878	blood:	n/a	chr6:31542591-31542600
5	CEBPB	chr6:31542336-31543700	GM12878	blood:	n/a	chr6:31543154-31543166
6	RUNX3	chr6:31541999-31543942	GM12878	blood:	n/a	n/a
7	RELA	chr6:31542097-31543866	GM18951	blood:	n/a	n/a
8	FOXM1	chr6:31542408-31543936	GM12878	blood:	n/a	n/a
9	RELA	chr6:31542195-31544417	GM10847	blood:	n/a	n/a
10	POLR2A	chr6:31541763-31548278	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:31541860-31543956	GM12892	blood:	n/a	n/a
12	RELA	chr6:31542479-31543685	GM12878	blood:	n/a	n/a
13	EBF1	chr6:31542509-31542959	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:31539444-31550290	GM12892	blood:	n/a	n/a
15	RELA	chr6:31541974-31545254	GM18505	blood:	n/a	n/a
16	RELA	chr6:31541542-31543778	GM12891	blood:	n/a	n/a
17	NFIC	chr6:31542359-31543713	GM12878	blood:	n/a	n/a
18	PAX5	chr6:31542427-31543644	GM12878	blood:	n/a	chr6:31543462-31543471 chr6:31542591-31542600
19	POLR2A	chr6:31539494-31550471	GM12892	blood:	n/a	n/a
20	POLR2A	chr6:31541889-31550787	GM12878	blood:	n/a	n/a
21	NFIC	chr6:31542269-31545205	GM12878	blood:	n/a	n/a
22	MTA3	chr6:31539044-31550840	GM12878	blood:	n/a	n/a
23	RELA	chr6:31542550-31543786	GM18526	blood:	n/a	n/a
24	SRF	chr6:31542607-31542791	GM12878	blood:	n/a	n/a
25	IRF4	chr6:31542529-31542915	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:31539679-31550540	GM12892	blood:	n/a	n/a
27	POLR2A	chr6:31541193-31547976	GM18951	blood:	n/a	n/a
28	RUNX3	chr6:31542072-31543876	GM12878	blood:	n/a	n/a
29	BHLHE40	chr6:31542580-31543549	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:31541959-31547643	GM18526	blood:	n/a	n/a
31	BCLAF1	chr6:31542072-31543974	GM12878	blood:	n/a	chr6:31542591-31542600 chr6:31542331-31542340
32	POLR2A	chr6:31541165-31549121	GM19099	blood:	n/a	n/a
33	CUX1	chr6:31542548-31543549	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:31539658-31549590	GM19193	blood:	n/a	n/a
35	POLR2A	chr6:31541956-31542928	GM12891	blood:	n/a	n/a
36	PML	chr6:31542028-31545110	GM12878	blood:	n/a	n/a
37	EP300	chr6:31542548-31543508	GM12878	blood:	n/a	chr6:31543113-31543126
38	POLR2A	chr6:31539653-31550430	GM18505	blood:	n/a	n/a
39	POLR2A	chr6:31542023-31542955	GM12891	blood:	n/a	n/a
40	POLR2A	chr6:31539169-31548233	GM12892	blood:	n/a	n/a
41	ELF1	chr6:31542506-31543774	GM12878	blood:	n/a	n/a
42	MAZ	chr6:31542583-31543594	GM12878	blood:	n/a	n/a
43	POU2F2	chr6:31542080-31542964	GM12891	blood:	n/a	chr6:31542328-31542340
44	NFATC1	chr6:31542291-31545135	GM12878	blood:	n/a	n/a
45	STAT5A	chr6:31542189-31544389	GM12878	blood:	n/a	n/a
46	BCLAF1	chr6:31542570-31545772	GM12878	blood:	n/a	chr6:31542591-31542600
47	IKZF1	chr6:31542067-31544993	GM12878	blood:	n/a	n/a
48	RELA	chr6:31542131-31543849	GM19193	blood:	n/a	n/a
49	EBF1	chr6:31542287-31543699	GM12878	blood:	n/a	n/a
50	FOXM1	chr6:31542412-31544014	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31542740-31542790	HUVEC	blood vessel:	n/a
2	chr6:31542740-31542790	BJ	skin:	n/a
3	chr6:31542740-31542790	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:31542740-31542790	H1-hESC	embryonic stem cell:	embryo
5	chr6:31542740-31542790	LNCaP	prostate:	n/a
6	chr6:31542740-31542790	U87	brain:	n/a
7	chr6:31542740-31542790	Caco-2	colon:	n/a
8	chr6:31542740-31542790	BE2_C	brain:	n/a
9	chr6:31542740-31542790	Jurkat	blood:	n/a
10	chr6:31542740-31542790	AoSMC	blood vessel:	n/a
11	chr6:31542740-31542790	HIPEpiC	eye:	n/a
12	chr6:31542740-31542790	HCPEpiC	choroid plexus:	n/a
13	chr6:31542740-31542790	AG09309	skin:	n/a
14	chr6:31542740-31542790	NH-A	brain:	n/a
15	chr6:31542740-31542790	GM19239	blood:	n/a
16	chr6:31542740-31542790	HAEpiC	amniotic membrane:	n/a
17	chr6:31542740-31542790	HCT-116	colon:	n/a
18	chr6:31542740-31542790	HNPCEpiC	eye:	n/a
19	chr6:31542740-31542790	Hepatocyte	liver:	n/a
20	chr6:31542740-31542790	HCF	heart:	n/a
21	chr6:31542740-31542790	SAEC	small airway:	n/a
22	chr6:31542740-31542790	HMEC	breast:	n/a
23	chr6:31542740-31542790	ECC-1	luminal epithelium:	n/a
24	chr6:31542740-31542790	PANC-1	pancreas:	n/a
25	chr6:31542740-31542790	SK-N-MC	brain:	n/a
26	chr6:31542740-31542790	SKMC	muscle:	n/a
27	chr6:31542740-31542790	GM06990	blood:	n/a
28	chr6:31542740-31542790	HL-60	blood:	n/a
29	chr6:31542740-31542790	HRE	kidney:	n/a
30	chr6:31542740-31542790	SK-N-SH_RA	brain:	n/a
31	chr6:31542740-31542790	AG04449	skin:	fetal
32	chr6:31542740-31542790	PFSK-1	brain:	n/a
33	chr6:31542740-31542790	MCF10A-Er-Src	breast:	n/a
34	chr6:31542740-31542790	PrEC	prostate:	n/a
35	chr6:31542740-31542790	GM12891	blood:	n/a
36	chr6:31542740-31542790	HRCEpiC	kidney:	n/a
37	chr6:31542740-31542790	T-47D	breast:	n/a
38	chr6:31542740-31542790	HCM	heart:	n/a
39	chr6:31542740-31542790	RPTEC	kidney:	n/a
40	chr6:31542740-31542790	NHBE	bronchial:	n/a
41	chr6:31542740-31542790	NT2-D1	testis:	n/a
42	chr6:31542740-31542790	Hela-S3	cervix:	n/a
43	chr6:31542740-31542790	ovcar-3	ovarian:	n/a
44	chr6:31542740-31542790	AG10803	skin:	n/a
45	chr6:31542740-31542790	NB4	blood:	n/a
46	chr6:31542740-31542790	HepG2	liver:	n/a
47	chr6:31542740-31542790	GM12878	blood:	n/a
48	chr6:31542740-31542790	GM12892	blood:	n/a
49	chr6:31542740-31542790	SK-N-SH	brain:	n/a
50	chr6:31542740-31542790	AG04450	lung:	fetal

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31507998..31511841-chr6:31541735..31545245,5	MCF-7	breast:
2	chr6:31542086..31543755-chr6:31589416..31592351,2	K562	blood:
3	chr6:31542672..31544804-chr6:31702664..31704373,2	MCF-7	breast:
4	chr6:31537225..31540645-chr6:31540911..31542870,3	K562	blood:
5	chr6:31542598..31545129-chr6:31587096..31589564,4	MCF-7	breast:
6	chr6:31499682..31501227-chr6:31540656..31543059,2	K562	blood:
7	chr6:31504619..31510971-chr6:31539361..31543067,6	K562	blood:

No data

Variant related genes	Relation type
TNF	TF binding region
TNF	CpG island
ENSG00000198563	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000200816	Chromatin interaction
ENSG00000213719	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000226979	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13211368	1.00[AFR][1000 genomes]
rs3093672	0.86[EUR][1000 genomes]
rs35963002	0.86[EUR][1000 genomes]
rs35969216	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs41273252	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4647191	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
2	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
3	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
4	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
5	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
6	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
7	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
8	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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 miRNA target site	378 gene(s)	inside rSNPs	diseases
9	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
10	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
11	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
12	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
13	nsv830627	chr6:31496214-31659950	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
14	nsv470809	chr6:31496915-31544189	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
15	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
16	nsv462870	chr6:31528130-31544189	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv601941	chr6:31528130-31544189	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31536000-31546200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:31536000-31548400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:31536600-31544200	Weak transcription	K562	blood
4	chr6:31537400-31542800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:31539000-31543200	Flanking Active TSS	GM12878-XiMat	blood
6	chr6:31540200-31548000	Weak transcription	Small Intestine	intestine
7	chr6:31540400-31543000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:31540600-31542800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:31540800-31542800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:31540800-31542800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:31540800-31542800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:31540800-31543000	Enhancers	Primary T cells from cord blood	blood
13	chr6:31540800-31543000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:31540800-31543200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:31540800-31543200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:31540800-31543200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr6:31540800-31543200	Enhancers	Fetal Thymus	thymus
18	chr6:31540800-31543200	Weak transcription	Thymus	Thymus
19	chr6:31541000-31542800	Enhancers	Primary B cells from cord blood	blood
20	chr6:31541000-31542800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr6:31541000-31542800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:31541000-31542800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:31541000-31543000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:31541000-31543400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr6:31541200-31543000	Enhancers	Spleen	Spleen
26	chr6:31541200-31543400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:31541400-31543000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr6:31541400-31546200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:31541600-31543000	Enhancers	Primary B cells from peripheral blood	blood
30	chr6:31541800-31543000	Weak transcription	Right Atrium	heart
31	chr6:31542000-31542800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr6:31542000-31543200	Enhancers	Primary hematopoietic stem cells	blood
33	chr6:31542200-31542800	Enhancers	Dnd41	blood
34	chr6:31542200-31543000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr6:31542200-31543000	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr6:31542200-31543200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:31542400-31543000	Enhancers	Adipose Nuclei	Adipose
38	chr6:31542400-31543200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr6:31542400-31543200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr6:31542400-31543600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr6:31542400-31545200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr6:31542600-31542800	Enhancers	Rectal Smooth Muscle	rectum
43	chr6:31542600-31542800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
44	chr6:31542600-31543000	Weak transcription	HSMMtube	muscle
45	chr6:31542600-31543400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr6:31542600-31543400	Bivalent Enhancer	Fetal Muscle Leg	muscle

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