Variant report

Variant	rs537102646
Chromosome Location	chr6:12008655-12008656
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:340)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr6:12008554-12009457	GM12878	blood:	n/a	n/a
2	ZMIZ1	chr6:12008264-12009836	K562	blood:	n/a	n/a
3	STAT5A	chr6:12008337-12009358	GM12878	blood:	n/a	n/a
4	TEAD4	chr6:12008221-12009775	K562	blood:	n/a	n/a
5	TCF7L2	chr6:12008006-12009276	HEK293	kidney:	n/a	chr6:12008919-12008933
6	BHLHE40	chr6:12008368-12009828	GM12878	blood:	n/a	chr6:12009310-12009326
7	MAX	chr6:12008484-12009867	Hela-S3	cervix:	n/a	chr6:12009161-12009170
8	MAX	chr6:12008442-12009754	A549	lung:	n/a	chr6:12009161-12009170
9	ELF1	chr6:12008504-12009412	GM12878	blood:	n/a	chr6:12009309-12009321 chr6:12009261-12009273 chr6:12009268-12009280
10	POLR2A	chr6:12008400-12011637	K562	blood:	n/a	n/a
11	HCFC1	chr6:12008484-12009740	K562	blood:	n/a	n/a
12	POLR2A	chr6:12008545-12013822	GM18951	blood:	n/a	n/a
13	ELF1	chr6:12008560-12009076	HepG2	liver:	n/a	n/a
14	TRIM28	chr6:12008373-12009400	K562	blood:	n/a	n/a
15	E2F4	chr6:12008445-12009323	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr6:12008481-12009757	GM18526	blood:	n/a	n/a
17	POLR2A	chr6:12008516-12013922	GM19193	blood:	n/a	n/a
18	MAX	chr6:12008501-12009865	K562	blood:	n/a	chr6:12009161-12009170
19	MXI1	chr6:12008646-12009889	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:12008529-12009874	GM12878	blood:	n/a	n/a
21	GATA3	chr6:12008565-12009206	T-47D	breast:	n/a	n/a
22	POLR2A	chr6:12007817-12015834	GM12878	blood:	n/a	n/a
23	RELA	chr6:12008607-12009319	GM15510	blood:	n/a	chr6:12009245-12009254 chr6:12009245-12009254
24	POLR2A	chr6:12008475-12009815	Hela-S3	cervix:	n/a	n/a
25	RELA	chr6:12008424-12009289	GM18505	blood:	n/a	chr6:12009245-12009254 chr6:12009245-12009254
26	ETS1	chr6:12008639-12009382	GM12878	blood:	n/a	n/a
27	TAF1	chr6:12008483-12009072	GM12891	blood:	n/a	n/a
28	TAF1	chr6:12008489-12009814	GM12878	blood:	n/a	n/a
29	CCNT2	chr6:12008406-12009802	K562	blood:	n/a	n/a
30	POLR2A	chr6:12008496-12009441	HCT-116	colon:	n/a	n/a
31	POLR2A	chr6:12008458-12009369	SK-N-SH	brain:	n/a	n/a
32	FOXM1	chr6:12008506-12009378	GM12878	blood:	n/a	n/a
33	RFX5	chr6:12008605-12009284	HepG2	liver:	n/a	n/a
34	EP300	chr6:12008587-12009316	HepG2	liver:	n/a	chr6:12009255-12009271
35	TCF12	chr6:12008535-12009612	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr6:12007783-12012797	K562	blood:	n/a	n/a
37	IKZF1	chr6:12008591-12009160	GM12878	blood:	n/a	n/a
38	POLR2A	chr6:12008635-12009324	U87	brain:	n/a	n/a
39	GATA2	chr6:12008487-12009140	K562	blood:	n/a	n/a
40	RAD21	chr6:12008542-12009052	SK-N-SH_RA	brain:	n/a	n/a
41	POLR2A	chr6:12008239-12015396	IMR90	lung:	n/a	n/a
42	GTF2F1	chr6:12008527-12009180	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr6:12008569-12009074	HepG2	liver:	n/a	n/a
44	TCF7L2	chr6:12008632-12009263	Hela-S3	cervix:	n/a	chr6:12008919-12008933
45	POLR2A	chr6:12008619-12008899	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF1	chr6:12008632-12009654	HepG2	liver:	n/a	n/a
47	YY1	chr6:12008454-12009012	SK-N-SH_RA	brain:	n/a	n/a
48	HEY1	chr6:12008281-12009349	HepG2	liver:	n/a	chr6:12009252-12009267
49	CHD2	chr6:12008467-12009691	Hela-S3	cervix:	n/a	n/a
50	SMARCB1	chr6:12008640-12010131	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:11990947..11994181-chr6:12007149..12010077,3	K562	blood:
2	chr6:11804488..11807450-chr6:12008603..12011488,3	MCF-7	breast:
3	chr13:53024029..53024646-chr6:12008218..12008734,2	Hela-S3	cervix:
4	chr19:15442596..15443457-chr6:12008582..12009195,2	Hela-S3	cervix:
5	chr12:57029606..57030383-chr6:12008234..12009003,2	Hela-S3	cervix:
6	chr1:109968661..109969227-chr6:12008493..12009023,2	Hela-S3	cervix:
7	chr11:66383680..66384551-chr6:12008610..12009525,2	Hela-S3	cervix:
8	chr6:12008600..12009379-chr6:43737966..43738894,2	Hela-S3	cervix:
9	chr6:11733150..11736062-chr6:12007778..12010289,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIVEP1-1	chr6:12008512-12008675	XLOC_005174
2	lnc-HIVEP1-1	chr6:12008512-12008853	XLOC_005174
3	lnc-HIVEP1-1	chr6:12008512-12009089	ENSG00000229896.1
4	lnc-C6orf105-5	chr6:12008548-12009073	NONHSAT107775
5	lnc-HIVEP1-1	chr6:12008512-12008876	ENSG00000229896.2

No data

Variant related genes	Relation type
HIVEP1	TF binding region
ENSG00000112715	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000136100	Chromatin interaction
ENSG00000143106	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000111863	Chromatin interaction
ENSG00000225102	Chromatin interaction
ENSG00000141867	Chromatin interaction
ENSG00000248643	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv970323	chr6:12006884-12020375	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv10446	chr6:12008060-12013799	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr6:12007400-12013400	Active TSS	K562	blood
2	chr6:12007800-12008800	Flanking Active TSS	Hela-S3	cervix
3	chr6:12007800-12008800	Flanking Active TSS	NHEK	skin
4	chr6:12007800-12009800	Active TSS	Liver	Liver
5	chr6:12007800-12009800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr6:12007800-12009800	Bivalent/Poised TSS	HepG2	liver
7	chr6:12007800-12011400	Active TSS	Fetal Muscle Trunk	muscle
8	chr6:12008000-12008800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr6:12008000-12008800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:12008000-12009000	Active TSS	Fetal Brain Male	brain
11	chr6:12008000-12014000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr6:12008200-12008800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
13	chr6:12008200-12008800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:12008200-12008800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr6:12008200-12008800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:12008200-12008800	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr6:12008200-12008800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr6:12008200-12008800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr6:12008200-12008800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:12008200-12008800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:12008200-12008800	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr6:12008200-12008800	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr6:12008200-12008800	Flanking Active TSS	Fetal Lung	lung
24	chr6:12008200-12008800	Flanking Active TSS	Fetal Stomach	stomach
25	chr6:12008200-12008800	Flanking Active TSS	GM12878-XiMat	blood
26	chr6:12008200-12009000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:12008200-12009200	Flanking Active TSS	HMEC	breast
28	chr6:12008200-12009800	Active TSS	Fetal Intestine Large	intestine
29	chr6:12008200-12010200	Active TSS	A549	lung
30	chr6:12008200-12010600	Active TSS	Fetal Muscle Leg	muscle
31	chr6:12008200-12014000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:12008400-12008800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:12008400-12008800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:12008400-12008800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr6:12008400-12008800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr6:12008400-12008800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:12008400-12008800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:12008400-12008800	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr6:12008400-12008800	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr6:12008400-12008800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr6:12008400-12008800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:12008400-12008800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr6:12008400-12008800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:12008400-12008800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr6:12008400-12008800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr6:12008400-12008800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:12008400-12008800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr6:12008400-12008800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr6:12008400-12008800	Flanking Active TSS	Fetal Brain Female	brain
50	chr6:12008400-12008800	Flanking Active TSS	Placenta	Placenta

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