Variant report

Variant	rs550465691
Chromosome Location	chr6:10838811-10838812
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:265)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr6:10838041-10839405	K562	blood:	n/a	n/a
2	KAP1	chr6:10837356-10839109	HEK293	kidney:	n/a	n/a
3	TBP	chr6:10838745-10839444	GM12878	blood:	n/a	n/a
4	RCOR1	chr6:10838506-10838940	HepG2	liver:	n/a	n/a
5	WRNIP1	chr6:10838771-10839128	GM12878	blood:	n/a	n/a
6	MXI1	chr6:10838588-10839636	GM12878	blood:	n/a	n/a
7	TCF12	chr6:10838343-10839018	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr6:10837791-10839195	H1-hESC	embryonic stem cell:	n/a	n/a
9	TAF7	chr6:10838528-10839009	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:10838369-10839171	HL-60	blood:	n/a	n/a
11	EGR1	chr6:10838608-10838972	K562	blood:	n/a	chr6:10838898-10838908 chr6:10838791-10838805
12	PAX5	chr6:10838498-10838973	GM12892	blood:	n/a	n/a
13	MAX	chr6:10838127-10838985	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr6:10838593-10839067	SK-N-SH	brain:	n/a	n/a
15	YY1	chr6:10838268-10839032	HepG2	liver:	n/a	n/a
16	MAX	chr6:10838366-10839043	SK-N-SH	brain:	n/a	n/a
17	MAX	chr6:10838198-10838996	A549	lung:	n/a	n/a
18	ATF2	chr6:10838569-10839712	GM12878	blood:	n/a	n/a
19	HCFC1	chr6:10838254-10839143	K562	blood:	n/a	n/a
20	POLR2A	chr6:10838797-10839007	GM12878	blood:	n/a	n/a
21	ZEB1	chr6:10838398-10838965	GM12878	blood:	n/a	n/a
22	FOS	chr6:10838717-10838893	MCF10A-Er-Src	breast:	n/a	n/a
23	RELA	chr6:10838614-10839646	GM18951	blood:	n/a	n/a
24	RCOR1	chr6:10838245-10839685	GM12878	blood:	n/a	n/a
25	FOXA1	chr6:10838617-10839309	HepG2	liver:	n/a	n/a
26	POLR2A	chr6:10838595-10838919	HepG2	liver:	n/a	n/a
27	CHD2	chr6:10838481-10838943	H1-hESC	embryonic stem cell:	n/a	n/a
28	EGR1	chr6:10838651-10838902	GM12878	blood:	n/a	chr6:10838791-10838805
29	STAT1	chr6:10838681-10838936	GM12878	blood:	n/a	chr6:10838870-10838882
30	UBTF	chr6:10837263-10838996	K562	blood:	n/a	n/a
31	MTA3	chr6:10838433-10839735	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:10838427-10838990	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr6:10838230-10838917	PANC-1	pancreas:	n/a	n/a
34	CHD2	chr6:10838625-10838877	HepG2	liver:	n/a	n/a
35	CTCF	chr6:10838701-10838859	K562	blood:	n/a	n/a
36	CBX3	chr6:10837446-10839152	K562	blood:	n/a	n/a
37	POLR2A	chr6:10838234-10839310	K562	blood:	n/a	n/a
38	ZNF143	chr6:10838586-10839075	K562	blood:	n/a	n/a
39	RELA	chr6:10838636-10839612	GM18505	blood:	n/a	n/a
40	CUX1	chr6:10838757-10839409	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:10838301-10839601	GM19099	blood:	n/a	n/a
42	ZNF143	chr6:10838362-10838903	H1-hESC	embryonic stem cell:	n/a	chr6:10838443-10838453
43	EP300	chr6:10838535-10839292	K562	blood:	n/a	chr6:10839094-10839103
44	STAT1	chr6:10838631-10839322	K562	blood:	n/a	chr6:10839284-10839298 chr6:10838870-10838882 chr6:10839097-10839104
45	JUND	chr6:10838527-10838973	H1-hESC	embryonic stem cell:	n/a	n/a
46	ELF1	chr6:10838361-10839030	K562	blood:	n/a	chr6:10838441-10838453
47	POLR2A	chr6:10837960-10839406	NB4	blood:	n/a	n/a
48	ZNF384	chr6:10838725-10838879	K562	blood:	n/a	n/a
49	POLR2A	chr6:10838264-10839113	ECC-1	luminal epithelium:	n/a	n/a
50	ZBTB7A	chr6:10838014-10838976	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:10838807-10838857	AG04449	skin:	fetal
2	chr6:10838807-10838857	HNPCEpiC	eye:	n/a
3	chr6:10838807-10838857	HUVEC	blood vessel:	n/a
4	chr6:10838807-10838857	SK-N-SH	brain:	n/a
5	chr6:10838807-10838857	Hela-S3	cervix:	n/a
6	chr6:10838807-10838857	HPAEpiC	pulmonary alveolar:	n/a
7	chr6:10838807-10838857	HCM	heart:	n/a
8	chr6:10838807-10838857	HCPEpiC	choroid plexus:	n/a
9	chr6:10838807-10838857	HCF	heart:	n/a
10	chr6:10838807-10838857	AG10803	skin:	n/a
11	chr6:10838807-10838857	GM06990	blood:	n/a
12	chr6:10838807-10838857	GM12892	blood:	n/a
13	chr6:10838807-10838857	AoSMC	blood vessel:	n/a
14	chr6:10838807-10838857	Jurkat	blood:	n/a
15	chr6:10838807-10838857	GM12878	blood:	n/a
16	chr6:10838807-10838857	SK-N-SH_RA	brain:	n/a
17	chr6:10838807-10838857	HCT-116	colon:	n/a
18	chr6:10838807-10838857	BJ	skin:	n/a
19	chr6:10838807-10838857	K562	blood:	n/a
20	chr6:10838807-10838857	PANC-1	pancreas:	n/a
21	chr6:10838807-10838857	GM12891	blood:	n/a
22	chr6:10838807-10838857	MCF-7	breast:	n/a
23	chr6:10838807-10838857	PrEC	prostate:	n/a
24	chr6:10838807-10838857	HMEC	breast:	n/a
25	chr6:10838807-10838857	SK-N-MC	brain:	n/a
26	chr6:10838807-10838857	BE2_C	brain:	n/a
27	chr6:10838807-10838857	GM19239	blood:	n/a
28	chr6:10838807-10838857	AG04450	lung:	fetal
29	chr6:10838807-10838857	H1-hESC	embryonic stem cell:	embryo
30	chr6:10838807-10838857	Hepatocyte	liver:	n/a
31	chr6:10838807-10838857	NHDF-neo	bronchial:	n/a
32	chr6:10838807-10838857	PFSK-1	brain:	n/a
33	chr6:10838807-10838857	RPTEC	kidney:	n/a
34	chr6:10838807-10838857	SKMC	muscle:	n/a
35	chr6:10838807-10838857	AG09309	skin:	n/a
36	chr6:10838807-10838857	HRE	kidney:	n/a
37	chr6:10838807-10838857	Caco-2	colon:	n/a
38	chr6:10838807-10838857	HEEpiC	esophagus:	n/a
39	chr6:10838807-10838857	CMK	blood:	n/a
40	chr6:10838807-10838857	IMR90	lung:	fetal
41	chr6:10838807-10838857	ProgFib	skin:	n/a
42	chr6:10838807-10838857	NT2-D1	testis:	n/a
43	chr6:10838807-10838857	HIPEpiC	eye:	n/a
44	chr6:10838807-10838857	ovcar-3	ovarian:	n/a
45	chr6:10838807-10838857	U87	brain:	n/a
46	chr6:10838807-10838857	NB4	blood:	n/a
47	chr6:10838807-10838857	HRCEpiC	kidney:	n/a
48	chr6:10838807-10838857	AG09319	gingival:	n/a
49	chr6:10838807-10838857	HAEpiC	amniotic membrane:	n/a
50	chr6:10838807-10838857	T-47D	breast:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:10521209..10523670-chr6:10836474..10839399,2	K562	blood:
2	chr6:10836947..10840318-chr6:10885523..10889072,5	K562	blood:
3	chr6:10836947..10840318-chr6:10885523..10888026,4	K562	blood:

No data

Variant related genes	Relation type
MAK	TF binding region
MAK	CpG island
ENSG00000111846	Chromatin interaction
ENSG00000153157	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv966670	chr6:10447671-10871889	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv462631	chr6:10449258-10839759	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv600979	chr6:10449258-10839759	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv470800	chr6:10538944-10863325	Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv869525	chr6:10542254-11058329	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv5197	chr6:10825530-10870620	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3434664	chr6:10838537-10838840	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 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	chr6:10836800-10839200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:10837200-10839000	Active TSS	Hela-S3	cervix
3	chr6:10837200-10839000	Bivalent/Poised TSS	NHDF-Ad	bronchial
4	chr6:10837200-10839200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr6:10837200-10839200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:10837200-10839200	Active TSS	Right Atrium	heart
7	chr6:10837200-10839400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:10837200-10839400	Active TSS	Brain Anterior Caudate	brain
9	chr6:10837400-10839000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:10837400-10839000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:10837400-10839000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr6:10837400-10839000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:10837400-10839000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
14	chr6:10837400-10839000	Active TSS	K562	blood
15	chr6:10837400-10839200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:10837400-10839200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr6:10837400-10839200	Active TSS	Brain Hippocampus Middle	brain
18	chr6:10837400-10839200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr6:10837400-10839200	Active TSS	Ovary	ovary
20	chr6:10837400-10839200	Active TSS	HSMM	muscle
21	chr6:10837400-10839200	Active TSS	HSMMtube	muscle
22	chr6:10837600-10839000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:10837600-10839000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:10837600-10839000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:10837600-10839000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
26	chr6:10837600-10839000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr6:10837600-10839000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
28	chr6:10837600-10839000	Active TSS	Pancreas	Pancrea
29	chr6:10837600-10839200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr6:10837600-10839200	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr6:10837600-10839200	Active TSS	Brain Substantia Nigra	brain
32	chr6:10837600-10839200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr6:10837600-10839200	Active TSS	Left Ventricle	heart
34	chr6:10837600-10839200	Active TSS	A549	lung
35	chr6:10837600-10839400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr6:10837600-10839400	Active TSS	Brain Angular Gyrus	brain
37	chr6:10837800-10839000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:10837800-10839000	Active TSS	Aorta	Aorta
39	chr6:10837800-10839000	Active TSS	Lung	lung
40	chr6:10837800-10839200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:10837800-10839400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
42	chr6:10837800-10839400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
43	chr6:10838000-10839000	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr6:10838000-10839000	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr6:10838000-10839000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
46	chr6:10838000-10839000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:10838000-10839000	Active TSS	Fetal Kidney	kidney
48	chr6:10838000-10839000	Active TSS	Fetal Lung	lung
49	chr6:10838000-10839000	Active TSS	Small Intestine	intestine
50	chr6:10838000-10839000	Active TSS	GM12878-XiMat	blood

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