Variant report

Variant	rs575034
Chromosome Location	chr6:44224924-44224925
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	SIN3AK20	chr6:44224570-44225585	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:44213387-44225291	U87	brain:	n/a	n/a
3	HDAC2	chr6:44224609-44225485	K562	blood:	n/a	n/a
4	MAX	chr6:44224555-44225759	K562	blood:	n/a	chr6:44225083-44225092 chr6:44224711-44224721 chr6:44225081-44225094 chr6:44225104-44225113 chr6:44225083-44225092 chr6:44225082-44225093 chr6:44225078-44225097 chr6:44225102-44225115
5	POU2F2	chr6:44224143-44226722	GM12878	blood:	n/a	chr6:44224710-44224722 chr6:44224715-44224727
6	YY1	chr6:44224781-44225849	GM12878	blood:	n/a	chr6:44225397-44225408 chr6:44224941-44224952 chr6:44225510-44225518 chr6:44224949-44224958
7	PML	chr6:44220368-44226860	GM12878	blood:	n/a	chr6:44223502-44223510
8	POLR2A	chr6:44214162-44225788	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:44213384-44225291	U87	brain:	n/a	n/a
10	MYC	chr6:44224774-44225530	MCF-7	breast:	n/a	chr6:44225083-44225092 chr6:44225081-44225094 chr6:44225104-44225113 chr6:44225083-44225092 chr6:44225082-44225093 chr6:44225078-44225097 chr6:44225102-44225115
11	BACH1	chr6:44224709-44225679	H1-hESC	embryonic stem cell:	n/a	n/a
12	SP4	chr6:44224638-44225499	H1-hESC	embryonic stem cell:	n/a	chr6:44224708-44224724
13	GABPA	chr6:44224671-44225579	HepG2	liver:	n/a	chr6:44225410-44225419 chr6:44224778-44224792 chr6:44224710-44224719
14	TBP	chr6:44224428-44225653	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr6:44214205-44227205	GM12891	blood:	n/a	n/a
16	TEAD4	chr6:44224669-44225165	HepG2	liver:	n/a	n/a
17	CREB1	chr6:44224079-44225947	HepG2	liver:	n/a	n/a
18	MAX	chr6:44224218-44225841	ECC-1	luminal epithelium:	n/a	chr6:44225083-44225092 chr6:44224711-44224721 chr6:44225081-44225094 chr6:44225104-44225113 chr6:44225083-44225092 chr6:44225082-44225093 chr6:44225078-44225097 chr6:44225102-44225115
19	TBP	chr6:44224691-44225793	K562	blood:	n/a	n/a
20	USF2	chr6:44224696-44225707	H1-hESC	embryonic stem cell:	n/a	chr6:44225105-44225114 chr6:44224713-44224729 chr6:44225098-44225119 chr6:44225104-44225113 chr6:44225102-44225115 chr6:44225104-44225113 chr6:44225103-44225112 chr6:44225081-44225092 chr6:44225102-44225113
21	SIN3AK20	chr6:44224851-44225278	PANC-1	pancreas:	n/a	n/a
22	USF1	chr6:44224750-44225379	A549	lung:	n/a	chr6:44225105-44225114 chr6:44225098-44225119 chr6:44225104-44225113 chr6:44225102-44225115 chr6:44225104-44225113 chr6:44225102-44225113 chr6:44225103-44225112 chr6:44225081-44225092
23	TAF1	chr6:44224448-44225564	HepG2	liver:	n/a	n/a
24	RUNX3	chr6:44223554-44226547	GM12878	blood:	n/a	n/a
25	TAF1	chr6:44224733-44225215	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr6:44218235-44226207	Hela-S3	cervix:	n/a	n/a
27	CREB1	chr6:44224638-44225775	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr6:44220531-44227269	GM19099	blood:	n/a	n/a
29	POLR2A	chr6:44224436-44225932	K562	blood:	n/a	n/a
30	CHD2	chr6:44224466-44225533	H1-hESC	embryonic stem cell:	n/a	chr6:44225411-44225421 chr6:44224708-44224718
31	USF1	chr6:44224654-44225573	K562	blood:	n/a	chr6:44225105-44225114 chr6:44224713-44224729 chr6:44225098-44225119 chr6:44225104-44225113 chr6:44225102-44225115 chr6:44225104-44225113 chr6:44225102-44225113 chr6:44225103-44225112 chr6:44225081-44225092
32	POLR2A	chr6:44224621-44226417	HL-60	blood:	n/a	n/a
33	NR2F2	chr6:44224292-44225121	K562	blood:	n/a	n/a
34	YY1	chr6:44224442-44225271	H1-hESC	embryonic stem cell:	n/a	chr6:44224941-44224952 chr6:44224659-44224668 chr6:44224710-44224719 chr6:44224949-44224958
35	ZNF263	chr6:44224440-44225180	HEK293-T-REx	kidney:	n/a	chr6:44224805-44224814 chr6:44224704-44224713
36	YY1	chr6:44224903-44225823	GM12878	blood:	n/a	chr6:44225397-44225408 chr6:44224941-44224952 chr6:44225510-44225518 chr6:44224949-44224958
37	POLR2A	chr6:44213452-44233528	GM12892	blood:	n/a	n/a
38	MAZ	chr6:44224312-44225715	K562	blood:	n/a	chr6:44225083-44225092 chr6:44224711-44224721 chr6:44225081-44225094 chr6:44225104-44225113 chr6:44225083-44225092 chr6:44225082-44225093 chr6:44225078-44225097 chr6:44225102-44225115
39	POLR2A	chr6:44220381-44226065	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr6:44213372-44233644	GM12891	blood:	n/a	n/a
41	TEAD4	chr6:44224775-44225649	K562	blood:	n/a	n/a
42	REST	chr6:44224626-44225481	K562	blood:	n/a	chr6:44224787-44224800
43	POU2F2	chr6:44224581-44226530	GM12891	blood:	n/a	chr6:44224710-44224722 chr6:44224715-44224727
44	SIN3AK20	chr6:44224649-44225438	HepG2	liver:	n/a	n/a
45	ZNF263	chr6:44224471-44226290	K562	blood:	n/a	chr6:44224805-44224814 chr6:44224704-44224713
46	HMGN3	chr6:44224573-44225586	K562	blood:	n/a	n/a
47	ATF3	chr6:44224748-44225354	HepG2	liver:	n/a	chr6:44225083-44225103 chr6:44225104-44225124 chr6:44225072-44225092 chr6:44225104-44225113 chr6:44225093-44225113
48	NFE2	chr6:44224917-44225662	K562	blood:	n/a	chr6:44225104-44225113 chr6:44225102-44225111 chr6:44225085-44225094 chr6:44225083-44225092 chr6:44225003-44225013
49	JUN	chr6:44221871-44226237	K562	blood:	n/a	n/a
50	USF1	chr6:44224792-44225417	A549	lung:	n/a	chr6:44225105-44225114 chr6:44225098-44225119 chr6:44225104-44225113 chr6:44225102-44225115 chr6:44225104-44225113 chr6:44225102-44225113 chr6:44225103-44225112 chr6:44225081-44225092

No.	Distal block	Cell Line	Cell type
1	chr6:44223709..44226790-chr6:44264741..44266558,3	MCF-7	breast:
2	chr6:44107297..44110338-chr6:44222390..44225778,3	K562	blood:
3	chr20:30194959..30195707-chr6:44224634..44225423,2	Hela-S3	cervix:
4	chr6:44224914..44225770-chr6:44280677..44281261,3	MCF-7	breast:
5	chr16:89989183..89990124-chr6:44224339..44225140,2	MCF-7	breast:
6	chr6:44189603..44194222-chr6:44219459..44225598,7	MCF-7	breast:
7	chr6:44055374..44057616-chr6:44223363..44225359,2	MCF-7	breast:
8	chr6:44223567..44227779-chr6:44264321..44266816,4	MCF-7	breast:
9	chr6:44093370..44096253-chr6:44223564..44226835,7	K562	blood:
10	chr6:44214120..44215707-chr6:44224252..44225325,5	Hela-S3	cervix:
11	chr17:7387528..7388144-chr6:44224362..44225347,2	Hela-S3	cervix:
12	chr6:44223584..44225235-chr6:44274881..44277464,2	MCF-7	breast:
13	chr6:43593647..43595263-chr6:44222300..44225086,2	K562	blood:
14	chr6:44224347..44225018-chr7:73668650..73669199,2	Hela-S3	cervix:
15	chr10:102759072..102759859-chr6:44224918..44225866,2	HCT-116	colon:
16	chr6:44222894..44225212-chr7:135347349..135349019,2	K562	blood:
17	chr6:44223815..44226053-chr6:44279566..44282424,2	MCF-7	breast:
18	chr6:44194780..44196882-chr6:44222691..44225125,2	MCF-7	breast:
19	chr6:43734520..43737591-chr6:44223261..44225123,3	K562	blood:
20	chr6:44102136..44105373-chr6:44223417..44225862,3	K562	blood:
21	chr6:44099546..44105774-chr6:44219938..44225862,7	K562	blood:
22	chr6:44222818..44225265-chr6:44280838..44282918,2	MCF-7	breast:
23	chr6:44094061..44096796-chr6:44223845..44226294,3	K562	blood:
24	chr6:44222000..44226440-chr6:44278583..44281839,6	K562	blood:

Variant related genes	Relation type
MIR4647	TF binding region
ENSG00000096384	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000183239	Chromatin interaction
ENSG00000258947	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000107816	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000049541	Chromatin interaction
ENSG00000146221	Chromatin interaction
ENSG00000124608	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10948128	0.85[ASN][1000 genomes]
rs11752427	0.88[ASN][1000 genomes]
rs1875324	0.92[ASN][1000 genomes]
rs2039361	0.88[ASN][1000 genomes]
rs3757283	0.87[ASN][1000 genomes]
rs4714772	0.88[ASN][1000 genomes]
rs476632	0.87[ASN][1000 genomes]
rs523891	0.89[ASN][1000 genomes]
rs9462978	0.87[ASN][1000 genomes]
rs9472236	0.88[ASN][1000 genomes]
rs9472238	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS 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 miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv885855	chr6:44223010-44231479	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
12	nsv885856	chr6:44223010-44232920	Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
13	nsv885857	chr6:44223010-44250165	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 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	chr6:44223200-44225600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:44223600-44225600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr6:44223600-44226000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:44223800-44225000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr6:44223800-44225000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:44223800-44225000	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr6:44223800-44225400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:44223800-44225400	Active TSS	HSMM	muscle
9	chr6:44223800-44225400	Active TSS	HSMMtube	muscle
10	chr6:44223800-44225600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:44223800-44225600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr6:44223800-44225800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:44223800-44226000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:44224000-44225000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr6:44224000-44225000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr6:44224000-44225000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:44224000-44225000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr6:44224000-44225200	Flanking Active TSS	Colonic Mucosa	Colon
19	chr6:44224000-44225400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr6:44224000-44225400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:44224000-44225600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:44224000-44225600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr6:44224000-44225600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr6:44224000-44225600	Active TSS	Fetal Kidney	kidney
25	chr6:44224000-44225800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr6:44224000-44225800	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr6:44224000-44225800	Active TSS	A549	lung
28	chr6:44224200-44225000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr6:44224200-44225000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr6:44224200-44225200	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr6:44224200-44225400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:44224200-44225400	Active TSS	Fetal Intestine Large	intestine
33	chr6:44224200-44225400	Active TSS	Fetal Lung	lung
34	chr6:44224200-44225400	Active TSS	NHDF-Ad	bronchial
35	chr6:44224200-44225600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:44224200-44225600	Active TSS	Brain Cingulate Gyrus	brain
37	chr6:44224200-44225800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:44224200-44225800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:44224200-44225800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:44224200-44226000	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr6:44224200-44226000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr6:44224400-44225000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr6:44224400-44225000	Flanking Active TSS	Placenta	Placenta
44	chr6:44224400-44225200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr6:44224400-44225400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:44224400-44225400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:44224400-44225400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:44224400-44225400	Active TSS	Gastric	stomach
49	chr6:44224400-44225400	Active TSS	Small Intestine	intestine
50	chr6:44224400-44225400	Active TSS	HMEC	breast

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