Variant report

Variant	rs114484994
Chromosome Location	chr6:4777652-4777653
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	RELA	chr6:4777462-4778900	GM12878	blood:	n/a	n/a
2	RELA	chr6:4777389-4778895	GM18951	blood:	n/a	n/a
3	POU2F2	chr6:4777265-4777789	GM12878	blood:	n/a	chr6:4777559-4777574 chr6:4777462-4777474
4	POLR2A	chr6:4775427-4777680	NB4	blood:	n/a	n/a
5	MTA3	chr6:4777267-4777902	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:4777394-4777822	GM12892	blood:	n/a	n/a
7	STAT1	chr6:4777540-4777697	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:4777443-4777750	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:4777417-4777699	Hela-S3	cervix:	n/a	n/a
10	MYC	chr6:4777500-4777652	K562	blood:	n/a	chr6:4777552-4777562
11	E2F6	chr6:4777396-4777663	K562	blood:	n/a	n/a
12	MAX	chr6:4774967-4777723	HepG2	liver:	n/a	chr6:4775819-4775828 chr6:4776302-4776311 chr6:4777256-4777266 chr6:4777552-4777562
13	FOXM1	chr6:4777346-4777858	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:4777394-4778648	GM12891	blood:	n/a	n/a
15	CREB1	chr6:4777096-4777966	GM12878	blood:	n/a	n/a
16	SMC3	chr6:4777436-4777786	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr6:4777462-4778287	GM12878	blood:	n/a	n/a
18	MAX	chr6:4777399-4777806	ECC-1	luminal epithelium:	n/a	chr6:4777552-4777562
19	POLR2A	chr6:4777418-4777774	GM12878	blood:	n/a	n/a
20	MAX	chr6:4777408-4777708	K562	blood:	n/a	chr6:4777552-4777562
21	POLR2A	chr6:4776349-4777668	K562	blood:	n/a	n/a
22	POU2F2	chr6:4777414-4777813	GM12891	blood:	n/a	chr6:4777559-4777574 chr6:4777462-4777474
23	RAD21	chr6:4777359-4777970	IMR90	lung:	n/a	n/a
24	RCOR1	chr6:4777463-4777787	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:4777421-4777875	MCF10A-Er-Src	breast:	n/a	n/a
26	MAZ	chr6:4775403-4777742	GM12878	blood:	n/a	chr6:4775819-4775828 chr6:4776302-4776311 chr6:4777256-4777266
27	MAX	chr6:4777430-4777772	Hela-S3	cervix:	n/a	chr6:4777552-4777562
28	EP300	chr6:4777409-4777802	GM12878	blood:	n/a	n/a
29	POLR2A	chr6:4777261-4778617	GM12891	blood:	n/a	n/a
30	ZNF384	chr6:4777610-4777815	K562	blood:	n/a	n/a
31	POLR2A	chr6:4777442-4777676	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr6:4777385-4778548	GM12878	blood:	n/a	n/a
33	MYC	chr6:4777454-4777857	MCF10A-Er-Src	breast:	n/a	chr6:4777552-4777562
34	POLR2A	chr6:4777408-4777801	GM12891	blood:	n/a	n/a
35	POLR2A	chr6:4777407-4777942	GM12892	blood:	n/a	n/a
36	POLR2A	chr6:4775555-4777837	GM15510	blood:	n/a	n/a
37	SIN3A	chr6:4777473-4778158	H1-hESC	embryonic stem cell:	n/a	n/a
38	NFATC1	chr6:4777407-4777793	GM12878	blood:	n/a	n/a
39	EP300	chr6:4777438-4777818	GM12878	blood:	n/a	n/a
40	MXI1	chr6:4777367-4778050	GM12878	blood:	n/a	n/a
41	SIN3A	chr6:4777463-4777762	GM12878	blood:	n/a	n/a
42	CREB1	chr6:4777368-4777965	K562	blood:	n/a	n/a
43	POLR2A	chr6:4775668-4777730	GM18951	blood:	n/a	n/a
44	E2F4	chr6:4777424-4777858	MCF10A-Er-Src	breast:	n/a	n/a
45	HEY1	chr6:4777390-4777797	K562	blood:	n/a	n/a
46	MYC	chr6:4777467-4777849	MCF10A-Er-Src	breast:	n/a	chr6:4777552-4777562
47	MYC	chr6:4777389-4777770	NB4	blood:	n/a	chr6:4777552-4777562
48	MAX	chr6:4777523-4777725	K562	blood:	n/a	chr6:4777552-4777562
49	STAT5A	chr6:4777408-4777789	GM12878	blood:	n/a	n/a
50	ZNF143	chr6:4777596-4777668	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:4775417..4779410-chr6:4834974..4837006,3	MCF-7	breast:
2	chr6:4776139..4778956-chr6:5002447..5004557,2	K562	blood:
3	chr6:4775727..4780301-chr6:4925378..4930668,5	K562	blood:
4	chr6:4776830..4778493-chr6:4928400..4930186,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236336	TF binding region
ENSG00000124787	Chromatin interaction
ENSG00000153046	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3429586	chr6:4719363-4792438	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv3358796	chr6:4775353-4778326	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3405553	chr6:4775578-4778126	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3438069	chr6:4775703-4778001	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3445880	chr6:4775978-4778526	Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4772800-4777800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:4773200-4778200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:4774200-4778000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:4774800-4777800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr6:4774800-4778000	Active TSS	Stomach Smooth Muscle	stomach
6	chr6:4775000-4777800	Active TSS	Brain Angular Gyrus	brain
7	chr6:4775000-4777800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:4775000-4777800	Active TSS	Colon Smooth Muscle	Colon
9	chr6:4775000-4777800	Active TSS	Esophagus	oesophagus
10	chr6:4775000-4777800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:4775000-4777800	Active TSS	Gastric	stomach
12	chr6:4775000-4777800	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr6:4775000-4777800	Active TSS	Rectal Smooth Muscle	rectum
14	chr6:4775000-4778000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:4775000-4778000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:4775000-4778000	Active TSS	Ovary	ovary
17	chr6:4775000-4778400	Active TSS	Brain Cingulate Gyrus	brain
18	chr6:4775000-4778400	Active TSS	A549	lung
19	chr6:4775200-4777800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:4775200-4777800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:4775200-4778000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:4775200-4778000	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr6:4775200-4778000	Active TSS	Psoas Muscle	Psoas
24	chr6:4775200-4778400	Active TSS	Aorta	Aorta
25	chr6:4775400-4777800	Active TSS	Brain Hippocampus Middle	brain
26	chr6:4775400-4777800	Active TSS	Lung	lung
27	chr6:4775400-4777800	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr6:4775400-4778000	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr6:4775400-4778000	Active TSS	Small Intestine	intestine
30	chr6:4775600-4777800	Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr6:4775600-4777800	Active TSS	Muscle Satellite Cultured Cells	--
32	chr6:4775600-4777800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:4775600-4777800	Active TSS	Brain Anterior Caudate	brain
34	chr6:4775600-4777800	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr6:4775600-4777800	Active TSS	HMEC	breast
36	chr6:4775600-4777800	Active TSS	NHEK	skin
37	chr6:4775600-4777800	Active TSS	Osteobl	bone
38	chr6:4775600-4778000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:4775600-4778000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:4775600-4778200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:4775600-4778200	Active TSS	Left Ventricle	heart
42	chr6:4775600-4778400	Active TSS	Right Ventricle	heart
43	chr6:4775600-4778600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:4775800-4777800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:4775800-4777800	Active TSS	Primary B cells from peripheral blood	blood
46	chr6:4775800-4777800	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr6:4775800-4777800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr6:4775800-4777800	Active TSS	Fetal Intestine Small	intestine
49	chr6:4775800-4777800	Active TSS	Fetal Muscle Leg	muscle
50	chr6:4775800-4777800	Active TSS	Fetal Stomach	stomach

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