Variant report

Variant	rs72548772
Chromosome Location	chr6:44187134-44187135
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	TCF7L2	chr6:44186863-44187528	HCT-116	colon:	n/a	n/a
2	TCF12	chr6:44186616-44187666	A549	lung:	n/a	chr6:44187304-44187311
3	HMGN3	chr6:44187007-44187527	K562	blood:	n/a	n/a
4	ZC3H11A	chr6:44186901-44187522	K562	blood:	n/a	n/a
5	TAF7	chr6:44186791-44187516	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr6:44186739-44187664	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr6:44187100-44187444	GM12891	blood:	n/a	n/a
8	POLR2A	chr6:44186952-44187640	GM18526	blood:	n/a	n/a
9	MAZ	chr6:44186919-44187432	Hela-S3	cervix:	n/a	chr6:44187101-44187116 chr6:44187247-44187257 chr6:44187104-44187115
10	MAX	chr6:44186889-44187773	NB4	blood:	n/a	chr6:44187101-44187116 chr6:44187247-44187257 chr6:44187104-44187115
11	POLR2A	chr6:44186861-44187601	GM15510	blood:	n/a	n/a
12	CHD2	chr6:44186838-44187475	GM12878	blood:	n/a	chr6:44187214-44187221 chr6:44187273-44187283
13	TFAP2C	chr6:44186804-44187394	Hela-S3	cervix:	n/a	chr6:44187023-44187038
14	HDAC2	chr6:44186881-44187482	MCF-7	breast:	n/a	n/a
15	HEY1	chr6:44186912-44187525	K562	blood:	n/a	chr6:44187384-44187399
16	POLR2A	chr6:44185928-44187842	Raji	blood:	n/a	n/a
17	MXI1	chr6:44186839-44187537	IMR90	lung:	n/a	n/a
18	POLR2A	chr6:44187049-44187487	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:44186769-44187520	GM12892	blood:	n/a	n/a
20	GTF2B	chr6:44187062-44187276	K562	blood:	n/a	n/a
21	YY1	chr6:44186960-44187500	K562	blood:	n/a	chr6:44187385-44187399 chr6:44187365-44187379
22	MXI1	chr6:44187076-44187446	HepG2	liver:	n/a	n/a
23	ELF1	chr6:44186969-44187614	K562	blood:	n/a	chr6:44187589-44187598
24	MAZ	chr6:44186661-44187607	IMR90	lung:	n/a	chr6:44187101-44187116 chr6:44187247-44187257 chr6:44187104-44187115
25	ATF2	chr6:44186782-44187232	H1-hESC	embryonic stem cell:	n/a	n/a
26	E2F6	chr6:44186835-44187516	A549	lung:	n/a	chr6:44187214-44187221
27	UBTF	chr6:44186866-44187544	K562	blood:	n/a	n/a
28	ATF2	chr6:44186790-44187511	GM12878	blood:	n/a	n/a
29	GABPA	chr6:44187007-44187512	K562	blood:	n/a	n/a
30	TCF7L2	chr6:44186885-44187340	HEK293	kidney:	n/a	n/a
31	POLR2A	chr6:44185078-44187512	PANC-1	pancreas:	n/a	n/a
32	HCFC1	chr6:44186919-44187517	K562	blood:	n/a	n/a
33	THAP1	chr6:44187110-44187533	K562	blood:	n/a	n/a
34	POLR2A	chr6:44187104-44187557	HepG2	liver:	n/a	n/a
35	POLR2A	chr6:44186773-44187534	SK-N-MC	brain:	n/a	n/a
36	SIN3A	chr6:44186892-44187485	GM12878	blood:	n/a	chr6:44187325-44187334
37	SP4	chr6:44186805-44187411	H1-hESC	embryonic stem cell:	n/a	chr6:44187138-44187149
38	E2F6	chr6:44186819-44187523	H1-hESC	embryonic stem cell:	n/a	chr6:44187214-44187221
39	MAX	chr6:44186784-44187670	ECC-1	luminal epithelium:	n/a	chr6:44187101-44187116 chr6:44187247-44187257 chr6:44187104-44187115
40	NFIC	chr6:44187072-44187789	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr6:44186776-44187483	H1-hESC	embryonic stem cell:	n/a	n/a
42	EP300	chr6:44186911-44187936	K562	blood:	n/a	chr6:44187219-44187228
43	POLR2A	chr6:44186124-44187749	GM19099	blood:	n/a	n/a
44	MAX	chr6:44186800-44187742	ECC-1	luminal epithelium:	n/a	chr6:44187101-44187116 chr6:44187247-44187257 chr6:44187104-44187115
45	POLR2A	chr6:44187120-44187458	Hela-S3	cervix:	n/a	n/a
46	TAF1	chr6:44186938-44187520	K562	blood:	n/a	n/a
47	MAX	chr6:44186877-44187506	K562	blood:	n/a	chr6:44187101-44187116 chr6:44187247-44187257 chr6:44187104-44187115
48	PML	chr6:44187049-44187494	K562	blood:	n/a	n/a
49	E2F6	chr6:44187035-44187175	K562	blood:	n/a	n/a
50	SP1	chr6:44186813-44187522	A549	lung:	n/a	chr6:44187274-44187283 chr6:44187135-44187149 chr6:44187138-44187150 chr6:44187246-44187258 chr6:44187013-44187023 chr6:44187140-44187149 chr6:44187013-44187027 chr6:44187013-44187022 chr6:44187275-44187284 chr6:44187247-44187257 chr6:44187246-44187258 chr6:44187012-44187024 chr6:44187139-44187148 chr6:44187273-44187285 chr6:44186967-44186980 chr6:44187274-44187283 chr6:44187138-44187150 chr6:44187138-44187149 chr6:44187139-44187149 chr6:44187012-44187024 chr6:44187013-44187023 chr6:44187014-44187023

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:44187132-44187182	HPAEpiC	pulmonary alveolar:	n/a
2	chr6:44187109-44187159	SAEC	small airway:	n/a
3	chr6:44187132-44187182	Hepatocyte	liver:	n/a
4	chr6:44187109-44187159	CMK	blood:	n/a
5	chr6:44187132-44187182	MCF-7	breast:	n/a
6	chr6:44187109-44187159	Caco-2	colon:	n/a
7	chr6:44187109-44187159	U87	brain:	n/a
8	chr6:44187109-44187159	NH-A	brain:	n/a
9	chr6:44187132-44187182	MCF10A-Er-Src	breast:	n/a
10	chr6:44187109-44187159	LNCaP	prostate:	n/a
11	chr6:44187132-44187182	GM06990	blood:	n/a
12	chr6:44187109-44187159	HEEpiC	esophagus:	n/a
13	chr6:44187109-44187159	HRE	kidney:	n/a
14	chr6:44187132-44187182	HUVEC	blood vessel:	n/a
15	chr6:44187132-44187182	Caco-2	colon:	n/a
16	chr6:44187132-44187182	HNPCEpiC	eye:	n/a
17	chr6:44187109-44187159	AG04450	lung:	fetal
18	chr6:44187109-44187159	RPTEC	kidney:	n/a
19	chr6:44187132-44187182	SAEC	small airway:	n/a
20	chr6:44187109-44187159	HepG2	liver:	n/a
21	chr6:44187109-44187159	GM19239	blood:	n/a
22	chr6:44187132-44187182	AoSMC	blood vessel:	n/a
23	chr6:44187132-44187182	BE2_C	brain:	n/a
24	chr6:44187132-44187182	LNCaP	prostate:	n/a
25	chr6:44187132-44187182	NHDF-neo	bronchial:	n/a
26	chr6:44187132-44187182	GM19239	blood:	n/a
27	chr6:44187132-44187182	HMEC	breast:	n/a
28	chr6:44187132-44187182	HIPEpiC	eye:	n/a
29	chr6:44187132-44187182	AG04450	lung:	fetal
30	chr6:44187132-44187182	PrEC	prostate:	n/a
31	chr6:44187132-44187182	GM12892	blood:	n/a
32	chr6:44187132-44187182	K562	blood:	n/a
33	chr6:44187132-44187182	BJ	skin:	n/a
34	chr6:44187132-44187182	SKMC	muscle:	n/a
35	chr6:44187132-44187182	NH-A	brain:	n/a
36	chr6:44187132-44187182	HL-60	blood:	n/a
37	chr6:44187132-44187182	GM12891	blood:	n/a
38	chr6:44187109-44187159	Hepatocyte	liver:	n/a
39	chr6:44187109-44187159	NB4	blood:	n/a
40	chr6:44187109-44187159	H1-hESC	embryonic stem cell:	embryo
41	chr6:44187109-44187159	IMR90	lung:	fetal
42	chr6:44187109-44187159	BE2_C	brain:	n/a
43	chr6:44187109-44187159	BJ	skin:	n/a
44	chr6:44187132-44187182	A549	lung:	n/a
45	chr6:44187109-44187159	HUVEC	blood vessel:	n/a
46	chr6:44187109-44187159	Hela-S3	cervix:	n/a
47	chr6:44187109-44187159	GM12878	blood:	n/a
48	chr6:44187109-44187159	HAEpiC	amniotic membrane:	n/a
49	chr6:44187109-44187159	HCT-116	colon:	n/a
50	chr6:44187109-44187159	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:43595047..43597149-chr6:44186099..44188923,2	K562	blood:

Variant related genes	Relation type
SLC29A1	TF binding region
SLC29A1	CpG island
ENSG00000172432	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1967873	1.00[AMR][1000 genomes]
rs2233425	1.00[AMR][1000 genomes]
rs36007985	1.00[AMR][1000 genomes]
rs61753595	1.00[AMR][1000 genomes]
rs73422548	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv885852	chr6:44185901-44222718	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 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	chr6:44184400-44187200	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr6:44184400-44187400	Flanking Active TSS	Fetal Muscle Trunk	muscle
3	chr6:44184600-44187200	Flanking Active TSS	Fetal Muscle Leg	muscle
4	chr6:44184600-44187600	Enhancers	Fetal Heart	heart
5	chr6:44185400-44188000	Flanking Active TSS	Liver	Liver
6	chr6:44185600-44189000	Weak transcription	NHEK	skin
7	chr6:44185800-44188000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr6:44185800-44189000	Weak transcription	HMEC	breast
9	chr6:44186000-44187200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:44186000-44187200	Flanking Active TSS	GM12878-XiMat	blood
11	chr6:44186200-44187200	Enhancers	Primary T cells from cord blood	blood
12	chr6:44186200-44187400	Flanking Active TSS	Colonic Mucosa	Colon
13	chr6:44186200-44188000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:44186200-44188000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr6:44186200-44188200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr6:44186400-44187800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:44186400-44187800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr6:44186400-44187800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:44186400-44187800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:44186600-44187200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr6:44186600-44187200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr6:44186600-44187400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:44186600-44187600	Active TSS	H1 Cell Line	embryonic stem cell
24	chr6:44186600-44187600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr6:44186600-44187600	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr6:44186600-44187600	Active TSS	Rectal Smooth Muscle	rectum
27	chr6:44186600-44187600	Active TSS	Hela-S3	cervix
28	chr6:44186600-44187800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr6:44186600-44187800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:44186600-44188000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:44186600-44188000	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:44186600-44188000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:44186600-44188000	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr6:44186600-44188000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:44186600-44188000	Active TSS	Fetal Kidney	kidney
36	chr6:44186600-44188000	Flanking Active TSS	Placenta	Placenta
37	chr6:44186600-44188000	Active TSS	HSMM	muscle
38	chr6:44186600-44188200	Active TSS	Right Atrium	heart
39	chr6:44186800-44187200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr6:44186800-44187200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:44186800-44187200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:44186800-44187200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:44186800-44187200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:44186800-44187200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr6:44186800-44187200	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr6:44186800-44187200	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr6:44186800-44187200	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr6:44186800-44187200	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr6:44186800-44187200	Flanking Active TSS	Fetal Lung	lung
50	chr6:44186800-44187200	Flanking Active TSS	Left Ventricle	heart

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