Variant report

Variant	rs534573147
Chromosome Location	chr6:44095149-44095150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:282)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:282 , 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	MYC	chr6:44094996-44095246	HepG2	liver:	n/a	chr6:44095138-44095147
2	SP4	chr6:44094916-44095353	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr6:44094496-44095351	K562	blood:	n/a	chr6:44095138-44095147
4	ELF1	chr6:44094961-44095325	K562	blood:	n/a	chr6:44095299-44095311
5	TBL1XR1	chr6:44094975-44095242	K562	blood:	n/a	n/a
6	POLR2A	chr6:44094544-44095583	GM18951	blood:	n/a	n/a
7	CTCF	chr6:44095020-44095170	HUVEC	blood vessel:	n/a	n/a
8	MAX	chr6:44094451-44095320	ECC-1	luminal epithelium:	n/a	chr6:44095138-44095147
9	ZKSCAN1	chr6:44094969-44095226	Hela-S3	cervix:	n/a	n/a
10	IRF1	chr6:44093998-44095304	K562	blood:	n/a	chr6:44095230-44095244 chr6:44094564-44094578
11	POLR2A	chr6:44094543-44095585	GM15510	blood:	n/a	n/a
12	NRF1	chr6:44095042-44095304	HepG2	liver:	n/a	chr6:44095160-44095169 chr6:44095158-44095172 chr6:44095158-44095169 chr6:44095158-44095169 chr6:44095218-44095229 chr6:44095155-44095169
13	POLR2A	chr6:44094949-44095222	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr6:44094910-44095235	Hela-S3	cervix:	n/a	n/a
15	EGR1	chr6:44094885-44095319	K562	blood:	n/a	chr6:44095159-44095168 chr6:44095053-44095068
16	IRF1	chr6:44095006-44095366	K562	blood:	n/a	chr6:44095230-44095244
17	MAX	chr6:44094555-44096822	HepG2	liver:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
18	POLR2A	chr6:44094887-44095244	HepG2	liver:	n/a	n/a
19	REST	chr6:44094914-44095250	HepG2	liver:	n/a	chr6:44095167-44095180
20	MYC	chr6:44094997-44095297	HUVEC	blood vessel:	n/a	chr6:44095138-44095147
21	CEBPD	chr6:44094969-44095270	HepG2	liver:	n/a	n/a
22	CHD2	chr6:44095011-44095563	GM12878	blood:	n/a	chr6:44095365-44095375
23	TBP	chr6:44094311-44095278	K562	blood:	n/a	n/a
24	NRF1	chr6:44094986-44095388	K562	blood:	n/a	chr6:44095160-44095169 chr6:44095158-44095172 chr6:44095158-44095169 chr6:44095158-44095169 chr6:44095218-44095229 chr6:44095155-44095169
25	MXI1	chr6:44093307-44096849	SK-N-SH	brain:	n/a	chr6:44095719-44095728
26	PML	chr6:44094339-44095387	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:44093915-44095324	GM12878	blood:	n/a	n/a
28	BACH1	chr6:44094684-44095234	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr6:44094353-44095589	PFSK-1	brain:	n/a	n/a
30	EP300	chr6:44094442-44095241	K562	blood:	n/a	chr6:44095080-44095096
31	SMC3	chr6:44095033-44095261	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr6:44093405-44095328	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr6:44094891-44095511	A549	lung:	n/a	n/a
34	MYC	chr6:44094949-44095260	MCF-7	breast:	n/a	chr6:44095138-44095147
35	POLR2A	chr6:44094943-44095229	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr6:44094458-44095651	HUVEC	blood vessel:	n/a	n/a
37	MXI1	chr6:44093987-44095259	GM12878	blood:	n/a	n/a
38	RCOR1	chr6:44094019-44095244	K562	blood:	n/a	n/a
39	POLR2A	chr6:44094500-44095340	HepG2	liver:	n/a	n/a
40	MAX	chr6:44094386-44095344	K562	blood:	n/a	chr6:44095138-44095147
41	POLR2A	chr6:44094938-44095345	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr6:44093605-44095294	HepG2	liver:	n/a	n/a
43	MAX	chr6:44094604-44095332	HepG2	liver:	n/a	chr6:44095138-44095147
44	TAF1	chr6:44094581-44095745	HepG2	liver:	n/a	n/a
45	MAX	chr6:44094911-44095292	K562	blood:	n/a	chr6:44095138-44095147
46	NRF1	chr6:44094983-44095390	H1-hESC	embryonic stem cell:	n/a	chr6:44095160-44095169 chr6:44095158-44095172 chr6:44095158-44095169 chr6:44095158-44095169 chr6:44095218-44095229 chr6:44095155-44095169
47	RELA	chr6:44094174-44095286	GM19193	blood:	n/a	n/a
48	TAF1	chr6:44094929-44095454	ECC-1	luminal epithelium:	n/a	n/a
49	CTCF	chr6:44095133-44095238	Spleen_OC	spleen:	n/a	n/a
50	MAX	chr6:44094929-44095403	SK-N-SH	brain:	n/a	chr6:44095138-44095147

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:44095108-44095158	HEK293	kidney:	embryo
2	chr6:44095108-44095158	HepG2	liver:	n/a
3	chr6:44095108-44095158	PrEC	prostate:	n/a
4	chr6:44095108-44095158	AG04449	skin:	fetal
5	chr6:44095108-44095158	AG04450	lung:	fetal
6	chr6:44095108-44095158	GM19239	blood:	n/a
7	chr6:44095108-44095158	AG09309	skin:	n/a
8	chr6:44095108-44095158	T-47D	breast:	n/a
9	chr6:44095108-44095158	PFSK-1	brain:	n/a
10	chr6:44095108-44095158	GM12892	blood:	n/a
11	chr6:44095108-44095158	NHBE	bronchial:	n/a
12	chr6:44095108-44095158	HNPCEpiC	eye:	n/a
13	chr6:44095108-44095158	HCPEpiC	choroid plexus:	n/a
14	chr6:44095108-44095158	SK-N-SH	brain:	n/a
15	chr6:44095108-44095158	BE2_C	brain:	n/a
16	chr6:44095108-44095158	HRE	kidney:	n/a
17	chr6:44095108-44095158	MCF10A-Er-Src	breast:	n/a
18	chr6:44095108-44095158	HPAEpiC	pulmonary alveolar:	n/a
19	chr6:44095108-44095158	IMR90	lung:	fetal
20	chr6:44095108-44095158	SK-N-SH_RA	brain:	n/a
21	chr6:44095108-44095158	SAEC	small airway:	n/a
22	chr6:44095108-44095158	ProgFib	skin:	n/a
23	chr6:44095108-44095158	GM12891	blood:	n/a
24	chr6:44095108-44095158	RPTEC	kidney:	n/a
25	chr6:44095108-44095158	NHDF-neo	bronchial:	n/a
26	chr6:44095108-44095158	MCF-7	breast:	n/a
27	chr6:44095108-44095158	HMEC	breast:	n/a
28	chr6:44095108-44095158	Hela-S3	cervix:	n/a
29	chr6:44095108-44095158	ECC-1	luminal epithelium:	n/a
30	chr6:44095108-44095158	HIPEpiC	eye:	n/a
31	chr6:44095108-44095158	SKMC	muscle:	n/a
32	chr6:44095108-44095158	Hepatocyte	liver:	n/a
33	chr6:44095108-44095158	HCM	heart:	n/a
34	chr6:44095108-44095158	CMK	blood:	n/a
35	chr6:44095108-44095158	H1-hESC	embryonic stem cell:	embryo
36	chr6:44095108-44095158	K562	blood:	n/a
37	chr6:44095108-44095158	GM12878	blood:	n/a
38	chr6:44095108-44095158	HCT-116	colon:	n/a
39	chr6:44095108-44095158	AG09319	gingival:	n/a
40	chr6:44095108-44095158	AG10803	skin:	n/a
41	chr6:44095108-44095158	PANC-1	pancreas:	n/a
42	chr6:44095108-44095158	ovcar-3	ovarian:	n/a
43	chr6:44095108-44095158	HRCEpiC	kidney:	n/a
44	chr6:44095108-44095158	SK-N-MC	brain:	n/a
45	chr6:44095108-44095158	HCF	heart:	n/a
46	chr6:44095108-44095158	HUVEC	blood vessel:	n/a
47	chr6:44095108-44095158	BJ	skin:	n/a
48	chr6:44095108-44095158	NB4	blood:	n/a
49	chr6:44095108-44095158	HAEpiC	amniotic membrane:	n/a
50	chr6:44095108-44095158	HEEpiC	esophagus:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44092343..44095710-chr6:44231665..44234902,4	K562	blood:
2	chr1:171750621..171751192-chr6:44094734..44095532,2	Hela-S3	cervix:
3	chr6:43740232..43742498-chr6:44094487..44097613,3	K562	blood:
4	chr6:44094685..44097058-chr6:44213813..44216236,2	MCF-7	breast:
5	chr6:44055370..44058215-chr6:44094460..44096529,3	K562	blood:
6	chr6:44093370..44096253-chr6:44223564..44226835,7	K562	blood:
7	chr6:44055370..44058215-chr6:44094927..44096529,2	K562	blood:
8	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
9	chr6:44092682..44101478-chr6:44189085..44198306,11	K562	blood:
10	chr6:44094061..44096796-chr6:44223845..44226294,3	K562	blood:
11	chr6:44093355..44096767-chr6:44213001..44216421,7	K562	blood:
12	chr11:62608617..62609721-chr6:44094675..44095678,3	NB4	blood:
13	chr6:44093355..44100261-chr6:44212966..44217093,13	K562	blood:
14	chr6:43596367..43598855-chr6:44092530..44095404,4	K562	blood:
15	chr6:44094789..44096473-chr6:44279267..44282226,2	K562	blood:
16	chr6:44093102..44095527-chr6:44231141..44233414,2	MCF-7	breast:
17	chr6:44095005..44097134-chr6:44184170..44186416,2	K562	blood:
18	chr6:43595621..43598855-chr6:44092842..44097752,6	K562	blood:

No data

Variant related genes	Relation type
TMEM63B	TF binding region
TMEM63B	CpG island
ENSG00000112715	Chromatin interaction
ENSG00000262179	Chromatin interaction
ENSG00000183239	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000146232	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000010165	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000124608	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3325720	chr6:44094199-44096747	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	esv3347288	chr6:44094599-44097147	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	16 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	chr6:44093200-44096200	Active TSS	Lung	lung
2	chr6:44093400-44096200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr6:44093800-44095800	Active TSS	Fetal Muscle Trunk	muscle
4	chr6:44093800-44096000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:44093800-44096400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr6:44093800-44096400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr6:44094000-44095200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:44094000-44096000	Active TSS	Ovary	ovary
9	chr6:44094000-44096200	Active TSS	Esophagus	oesophagus
10	chr6:44094000-44096200	Active TSS	HMEC	breast
11	chr6:44094000-44096800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr6:44094000-44096800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:44094200-44095600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:44094200-44095800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:44094200-44095800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:44094200-44096000	Active TSS	Muscle Satellite Cultured Cells	--
17	chr6:44094200-44096000	Active TSS	Pancreas	Pancrea
18	chr6:44094200-44096200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:44094200-44096200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:44094200-44096200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:44094200-44096200	Active TSS	Fetal Intestine Small	intestine
22	chr6:44094200-44096200	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr6:44094200-44096200	Active TSS	GM12878-XiMat	blood
24	chr6:44094200-44096200	Active TSS	Osteobl	bone
25	chr6:44094200-44096400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:44094200-44096400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:44094200-44096400	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr6:44094200-44096400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:44094200-44096400	Active TSS	Small Intestine	intestine
30	chr6:44094200-44096400	Active TSS	NHDF-Ad	bronchial
31	chr6:44094200-44096800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:44094200-44096800	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr6:44094200-44096800	Active TSS	Fetal Kidney	kidney
34	chr6:44094200-44096800	Active TSS	HSMM	muscle
35	chr6:44094400-44095400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:44094400-44095400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:44094400-44095600	Active TSS	Stomach Smooth Muscle	stomach
38	chr6:44094400-44095600	Active TSS	Monocytes-CD14+_RO01746	blood
39	chr6:44094400-44095800	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr6:44094400-44095800	Active TSS	Colonic Mucosa	Colon
41	chr6:44094400-44096000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:44094400-44096000	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr6:44094400-44096000	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr6:44094400-44096000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:44094400-44096000	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr6:44094400-44096000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:44094400-44096000	Active TSS	Fetal Lung	lung
48	chr6:44094400-44096000	Active TSS	Fetal Muscle Leg	muscle
49	chr6:44094400-44096000	Active TSS	Fetal Stomach	stomach
50	chr6:44094400-44096000	Active TSS	Gastric	stomach

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