Variant report

Variant	rs77423333
Chromosome Location	chr6:44095280-44095281
allele	A/C
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	SP4	chr6:44094916-44095353	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYC	chr6:44094496-44095351	K562	blood:	n/a	chr6:44095138-44095147
3	ELF1	chr6:44094961-44095325	K562	blood:	n/a	chr6:44095299-44095311
4	POLR2A	chr6:44094544-44095583	GM18951	blood:	n/a	n/a
5	MAX	chr6:44094451-44095320	ECC-1	luminal epithelium:	n/a	chr6:44095138-44095147
6	IRF1	chr6:44093998-44095304	K562	blood:	n/a	chr6:44095230-44095244 chr6:44094564-44094578
7	POLR2A	chr6:44094543-44095585	GM15510	blood:	n/a	n/a
8	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
9	EGR1	chr6:44094885-44095319	K562	blood:	n/a	chr6:44095159-44095168 chr6:44095053-44095068
10	IRF1	chr6:44095006-44095366	K562	blood:	n/a	chr6:44095230-44095244
11	MAX	chr6:44094555-44096822	HepG2	liver:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
12	MYC	chr6:44094997-44095297	HUVEC	blood vessel:	n/a	chr6:44095138-44095147
13	CHD2	chr6:44095011-44095563	GM12878	blood:	n/a	chr6:44095365-44095375
14	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
15	MXI1	chr6:44093307-44096849	SK-N-SH	brain:	n/a	chr6:44095719-44095728
16	PML	chr6:44094339-44095387	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:44093915-44095324	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:44094353-44095589	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr6:44093405-44095328	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr6:44094891-44095511	A549	lung:	n/a	n/a
21	POLR2A	chr6:44094458-44095651	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr6:44094500-44095340	HepG2	liver:	n/a	n/a
23	SIN3AK20	chr6:44095280-44095693	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr6:44094386-44095344	K562	blood:	n/a	chr6:44095138-44095147
25	POLR2A	chr6:44094938-44095345	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr6:44093605-44095294	HepG2	liver:	n/a	n/a
27	MAX	chr6:44094604-44095332	HepG2	liver:	n/a	chr6:44095138-44095147
28	TAF1	chr6:44094581-44095745	HepG2	liver:	n/a	n/a
29	MAX	chr6:44094911-44095292	K562	blood:	n/a	chr6:44095138-44095147
30	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
31	RELA	chr6:44094174-44095286	GM19193	blood:	n/a	n/a
32	POLR2A	chr6:44095279-44095440	A549	lung:	n/a	n/a
33	TAF1	chr6:44094929-44095454	ECC-1	luminal epithelium:	n/a	n/a
34	MAX	chr6:44094929-44095403	SK-N-SH	brain:	n/a	chr6:44095138-44095147
35	POLR2A	chr6:44094839-44095318	HepG2	liver:	n/a	n/a
36	POLR2A	chr6:44094508-44095566	K562	blood:	n/a	n/a
37	POLR2A	chr6:44094410-44095619	K562	blood:	n/a	n/a
38	MAX	chr6:44094469-44095330	Hela-S3	cervix:	n/a	chr6:44095138-44095147
39	SIN3A	chr6:44094343-44096576	H1-hESC	embryonic stem cell:	n/a	chr6:44095951-44095960 chr6:44095972-44095985
40	POLR2A	chr6:44094744-44095432	HUVEC	blood vessel:	n/a	n/a
41	MXI1	chr6:44094979-44095324	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr6:44094513-44095353	GM18526	blood:	n/a	n/a
43	POLR2A	chr6:44094623-44095566	ProgFib	skin:	n/a	n/a
44	TAF1	chr6:44094888-44095331	PFSK-1	brain:	n/a	n/a
45	MYC	chr6:44094948-44095313	K562	blood:	n/a	chr6:44095138-44095147
46	MAZ	chr6:44094352-44096578	K562	blood:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
47	POLR2A	chr6:44093945-44095613	K562	blood:	n/a	n/a
48	E2F4	chr6:44094507-44095615	K562	blood:	n/a	chr6:44095159-44095168 chr6:44095090-44095101
49	POLR2A	chr6:44094908-44095598	HEK293	kidney:	n/a	n/a
50	POLR2A	chr6:44094143-44095297	IMR90	lung:	n/a	n/a

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	chr6:44042031..44044413-chr6:44095279..44097168,2	K562	blood:
13	chr11:62608617..62609721-chr6:44094675..44095678,3	NB4	blood:
14	chr6:44093355..44100261-chr6:44212966..44217093,13	K562	blood:
15	chr6:43596367..43598855-chr6:44092530..44095404,4	K562	blood:
16	chr6:44094789..44096473-chr6:44279267..44282226,2	K562	blood:
17	chr6:44093102..44095527-chr6:44231141..44233414,2	MCF-7	breast:
18	chr6:44095005..44097134-chr6:44184170..44186416,2	K562	blood:
19	chr6:43595621..43598855-chr6:44092842..44097752,6	K562	blood:

Variant related genes	Relation type
MRPL14	TF binding region
TMEM63B	TF binding region
ENSG00000124608	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000262179	Chromatin interaction
ENSG00000183239	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000146232	Chromatin interaction
ENSG00000010165	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	chr6:44094000-44096000	Active TSS	Ovary	ovary
8	chr6:44094000-44096200	Active TSS	Esophagus	oesophagus
9	chr6:44094000-44096200	Active TSS	HMEC	breast
10	chr6:44094000-44096800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr6:44094000-44096800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:44094200-44095600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:44094200-44095800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:44094200-44095800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:44094200-44096000	Active TSS	Muscle Satellite Cultured Cells	--
16	chr6:44094200-44096000	Active TSS	Pancreas	Pancrea
17	chr6:44094200-44096200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:44094200-44096200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:44094200-44096200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:44094200-44096200	Active TSS	Fetal Intestine Small	intestine
21	chr6:44094200-44096200	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr6:44094200-44096200	Active TSS	GM12878-XiMat	blood
23	chr6:44094200-44096200	Active TSS	Osteobl	bone
24	chr6:44094200-44096400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:44094200-44096400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:44094200-44096400	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr6:44094200-44096400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:44094200-44096400	Active TSS	Small Intestine	intestine
29	chr6:44094200-44096400	Active TSS	NHDF-Ad	bronchial
30	chr6:44094200-44096800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:44094200-44096800	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr6:44094200-44096800	Active TSS	Fetal Kidney	kidney
33	chr6:44094200-44096800	Active TSS	HSMM	muscle
34	chr6:44094400-44095400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:44094400-44095400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:44094400-44095600	Active TSS	Stomach Smooth Muscle	stomach
37	chr6:44094400-44095600	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr6:44094400-44095800	Active TSS	Primary monocytes fromperipheralblood	blood
39	chr6:44094400-44095800	Active TSS	Colonic Mucosa	Colon
40	chr6:44094400-44096000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:44094400-44096000	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr6:44094400-44096000	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr6:44094400-44096000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:44094400-44096000	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr6:44094400-44096000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:44094400-44096000	Active TSS	Fetal Lung	lung
47	chr6:44094400-44096000	Active TSS	Fetal Muscle Leg	muscle
48	chr6:44094400-44096000	Active TSS	Fetal Stomach	stomach
49	chr6:44094400-44096000	Active TSS	Gastric	stomach
50	chr6:44094400-44096000	Active TSS	Rectal Mucosa Donor 29	rectum

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