Variant report

Variant	rs575476892
Chromosome Location	chr6:44095690-44095691
allele	A/G
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	EGR1	chr6:44095532-44096057	K562	blood:	n/a	chr6:44095692-44095702 chr6:44095807-44095820 chr6:44095685-44095695 chr6:44095811-44095821 chr6:44095813-44095826 chr6:44095807-44095820 chr6:44095808-44095817 chr6:44095807-44095820 chr6:44095804-44095818 chr6:44095687-44095700 chr6:44095806-44095821 chr6:44095807-44095817 chr6:44095570-44095583
2	MAX	chr6:44094555-44096822	HepG2	liver:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
3	MXI1	chr6:44093307-44096849	SK-N-SH	brain:	n/a	chr6:44095719-44095728
4	SIN3AK20	chr6:44095280-44095693	H1-hESC	embryonic stem cell:	n/a	n/a
5	TAF1	chr6:44094581-44095745	HepG2	liver:	n/a	n/a
6	MAX	chr6:44095659-44096308	MCF-7	breast:	n/a	n/a
7	SIN3A	chr6:44094343-44096576	H1-hESC	embryonic stem cell:	n/a	chr6:44095951-44095960 chr6:44095972-44095985
8	SIN3AK20	chr6:44095684-44096217	K562	blood:	n/a	n/a
9	ZEB1	chr6:44095356-44095891	GM12878	blood:	n/a	n/a
10	EGR1	chr6:44095676-44095886	GM12878	blood:	n/a	chr6:44095692-44095702 chr6:44095807-44095820 chr6:44095685-44095695 chr6:44095811-44095821 chr6:44095813-44095826 chr6:44095807-44095820 chr6:44095808-44095817 chr6:44095807-44095820 chr6:44095804-44095818 chr6:44095687-44095700 chr6:44095806-44095821 chr6:44095807-44095817
11	MAZ	chr6:44094352-44096578	K562	blood:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
12	CCNT2	chr6:44094448-44096117	K562	blood:	n/a	chr6:44095812-44095821 chr6:44094697-44094706 chr6:44095686-44095695 chr6:44095692-44095701 chr6:44095344-44095353 chr6:44095356-44095365 chr6:44095653-44095662 chr6:44095575-44095584 chr6:44095350-44095359
13	ELF1	chr6:44094500-44096213	GM12878	blood:	n/a	chr6:44095979-44095991 chr6:44095640-44095649 chr6:44095299-44095311 chr6:44095685-44095697
14	ZBTB7A	chr6:44095216-44095916	HepG2	liver:	n/a	chr6:44095423-44095432
15	HCFC1	chr6:44093923-44095784	Hela-S3	cervix:	n/a	n/a
16	ZBTB7A	chr6:44095273-44095958	HepG2	liver:	n/a	chr6:44095423-44095432
17	MAZ	chr6:44094009-44096852	IMR90	lung:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
18	ZEB1	chr6:44095483-44095847	GM12878	blood:	n/a	n/a
19	HMGN3	chr6:44094506-44096613	K562	blood:	n/a	n/a
20	MAX	chr6:44095665-44096338	H1-hESC	embryonic stem cell:	n/a	chr6:44096314-44096324
21	UBTF	chr6:44095492-44096230	K562	blood:	n/a	n/a
22	HDAC2	chr6:44095273-44096476	MCF-7	breast:	n/a	n/a
23	SIN3AK20	chr6:44094240-44096325	MCF-7	breast:	n/a	n/a
24	MXI1	chr6:44094199-44096188	HepG2	liver:	n/a	chr6:44095719-44095728
25	ZBTB7A	chr6:44094357-44096601	ECC-1	luminal epithelium:	n/a	chr6:44095423-44095432 chr6:44096163-44096172 chr6:44094828-44094839
26	SMARCB1	chr6:44094592-44095901	Hela-S3	cervix:	n/a	n/a
27	UBTF	chr6:44094080-44096456	K562	blood:	n/a	n/a
28	MXI1	chr6:44093962-44096916	IMR90	lung:	n/a	chr6:44095719-44095728
29	MAZ	chr6:44094266-44095883	GM12878	blood:	n/a	chr6:44095138-44095147
30	EGR1	chr6:44095548-44096187	K562	blood:	n/a	chr6:44095692-44095702 chr6:44095807-44095820 chr6:44095685-44095695 chr6:44095811-44095821 chr6:44096159-44096172 chr6:44096161-44096171 chr6:44095813-44095826 chr6:44095807-44095820 chr6:44095808-44095817 chr6:44095807-44095820 chr6:44095804-44095818 chr6:44095687-44095700 chr6:44095806-44095821 chr6:44095807-44095817 chr6:44095570-44095583
31	EGR1	chr6:44095624-44096049	MCF-7	breast:	n/a	chr6:44095692-44095702 chr6:44095807-44095820 chr6:44095685-44095695 chr6:44095811-44095821 chr6:44095813-44095826 chr6:44095807-44095820 chr6:44095808-44095817 chr6:44095807-44095820 chr6:44095804-44095818 chr6:44095687-44095700 chr6:44095806-44095821 chr6:44095807-44095817
32	CTCF	chr6:44095600-44095750	Caco-2	colon:	n/a	n/a
33	POLR2A	chr6:44093408-44095791	SK-N-MC	brain:	n/a	n/a
34	ZBTB7A	chr6:44094473-44096507	ECC-1	luminal epithelium:	n/a	chr6:44095423-44095432 chr6:44096163-44096172 chr6:44094828-44094839
35	ZBTB7A	chr6:44094463-44096612	K562	blood:	n/a	chr6:44095423-44095432 chr6:44096163-44096172 chr6:44094828-44094839
36	ZBTB7A	chr6:44094499-44096715	K562	blood:	n/a	chr6:44095423-44095432 chr6:44096163-44096172 chr6:44094828-44094839

No.	Distal block	Cell Line	Cell type
1	chr6:44092343..44095710-chr6:44231665..44234902,4	K562	blood:
2	chr6:43740232..43742498-chr6:44094487..44097613,3	K562	blood:
3	chr6:44095603..44096130-chr6:44224891..44225616,2	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	chr6:44095576..44096087-chr6:44119284..44120059,2	MCF-7	breast:
12	chr6:44093355..44096767-chr6:44213001..44216421,7	K562	blood:
13	chr6:44042031..44044413-chr6:44095279..44097168,2	K562	blood:
14	chr6:44093355..44100261-chr6:44212966..44217093,13	K562	blood:
15	chr6:44094789..44096473-chr6:44279267..44282226,2	K562	blood:
16	chr6:44095005..44097134-chr6:44184170..44186416,2	K562	blood:
17	chr6:43595621..43598855-chr6:44092842..44097752,6	K562	blood:

Variant related genes	Relation type
MRPL14	TF binding region
ENSG00000124688	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000262179	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000124608	Chromatin interaction
ENSG00000146232	Chromatin interaction
ENSG00000183239	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	chr6:44094200-44095800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:44094200-44095800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:44094200-44096000	Active TSS	Muscle Satellite Cultured Cells	--
15	chr6:44094200-44096000	Active TSS	Pancreas	Pancrea
16	chr6:44094200-44096200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:44094200-44096200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:44094200-44096200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:44094200-44096200	Active TSS	Fetal Intestine Small	intestine
20	chr6:44094200-44096200	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr6:44094200-44096200	Active TSS	GM12878-XiMat	blood
22	chr6:44094200-44096200	Active TSS	Osteobl	bone
23	chr6:44094200-44096400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:44094200-44096400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:44094200-44096400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr6:44094200-44096400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:44094200-44096400	Active TSS	Small Intestine	intestine
28	chr6:44094200-44096400	Active TSS	NHDF-Ad	bronchial
29	chr6:44094200-44096800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:44094200-44096800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr6:44094200-44096800	Active TSS	Fetal Kidney	kidney
32	chr6:44094200-44096800	Active TSS	HSMM	muscle
33	chr6:44094400-44095800	Active TSS	Primary monocytes fromperipheralblood	blood
34	chr6:44094400-44095800	Active TSS	Colonic Mucosa	Colon
35	chr6:44094400-44096000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:44094400-44096000	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr6:44094400-44096000	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr6:44094400-44096000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:44094400-44096000	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr6:44094400-44096000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:44094400-44096000	Active TSS	Fetal Lung	lung
42	chr6:44094400-44096000	Active TSS	Fetal Muscle Leg	muscle
43	chr6:44094400-44096000	Active TSS	Fetal Stomach	stomach
44	chr6:44094400-44096000	Active TSS	Gastric	stomach
45	chr6:44094400-44096000	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr6:44094400-44096000	Active TSS	Rectal Smooth Muscle	rectum
47	chr6:44094400-44096000	Active TSS	Right Ventricle	heart
48	chr6:44094400-44096000	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr6:44094400-44096000	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr6:44094400-44096000	Active TSS	Spleen	Spleen

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