Variant report

Variant	rs17184911
Chromosome Location	chr6:29720821-29720822
allele	C/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	YY1	chr6:29720781-29721125	H1-hESC	embryonic stem cell:	n/a	n/a
2	SMC3	chr6:29720762-29721200	GM12878	blood:	n/a	chr6:29720978-29720986
3	POLR2A	chr6:29719953-29721132	GM18505	blood:	n/a	n/a
4	RAD21	chr6:29720670-29721180	H1-hESC	embryonic stem cell:	n/a	chr6:29720801-29720815
5	CTCF	chr6:29720821-29721197	GM19238	blood:	n/a	chr6:29720979-29720988 chr6:29721022-29721038
6	E2F6	chr6:29720260-29721197	K562	blood:	n/a	chr6:29720335-29720346 chr6:29720335-29720346 chr6:29720335-29720346
7	ZNF263	chr6:29719869-29721144	HEK293-T-REx	kidney:	n/a	chr6:29719945-29719954
8	MAX	chr6:29720701-29721273	MCF-7	breast:	n/a	chr6:29720727-29720737
9	TEAD4	chr6:29720484-29721155	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr6:29720746-29721261	A549	lung:	n/a	n/a
11	ZNF143	chr6:29720329-29721183	K562	blood:	n/a	n/a
12	POLR2A	chr6:29720057-29721137	GM12891	blood:	n/a	n/a
13	CTCF	chr6:29720740-29721135	A549	lung:	n/a	chr6:29720979-29720988 chr6:29721022-29721038 chr6:29720801-29720814
14	TFAP2A	chr6:29720186-29721347	Hela-S3	cervix:	n/a	chr6:29720555-29720566 chr6:29721050-29721060 chr6:29721050-29721060 chr6:29721050-29721060 chr6:29720437-29720449 chr6:29720555-29720566 chr6:29721048-29721060 chr6:29721050-29721060
15	GATA1	chr6:29719758-29721098	PBDE	blood:	n/a	n/a
16	CTCF	chr6:29720567-29721252	GM12878	blood:	n/a	chr6:29720979-29720988 chr6:29721022-29721038 chr6:29720801-29720814
17	CTCF	chr6:29720712-29721264	HepG2	liver:	n/a	chr6:29720979-29720988 chr6:29721022-29721038 chr6:29720801-29720814
18	STAT3	chr6:29720658-29721080	MCF10A-Er-Src	breast:	n/a	chr6:29720723-29720735
19	TAF1	chr6:29720170-29721099	K562	blood:	n/a	n/a
20	RAD21	chr6:29720784-29721232	IMR90	lung:	n/a	chr6:29720801-29720815
21	POLR2A	chr6:29720074-29721167	Hela-S3	cervix:	n/a	n/a
22	RAD21	chr6:29720690-29721196	Hela-S3	cervix:	n/a	chr6:29720801-29720815
23	NR2F2	chr6:29720181-29721219	K562	blood:	n/a	n/a
24	IRF1	chr6:29720748-29721139	K562	blood:	n/a	chr6:29720887-29720901
25	YY1	chr6:29720346-29721135	K562	blood:	n/a	n/a
26	MAX	chr6:29720208-29721234	K562	blood:	n/a	chr6:29720727-29720737
27	POLR2A	chr6:29720452-29721086	A549	lung:	n/a	n/a
28	POLR2A	chr6:29720543-29720867	A549	lung:	n/a	n/a
29	TAF1	chr6:29720243-29721033	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr6:29720026-29721255	K562	blood:	n/a	n/a
31	RCOR1	chr6:29720442-29721134	GM12878	blood:	n/a	n/a
32	NFIC	chr6:29720228-29721113	GM12878	blood:	n/a	n/a
33	NANOG	chr6:29720794-29721189	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr6:29719885-29721146	GM12892	blood:	n/a	n/a
35	USF1	chr6:29720792-29721156	A549	lung:	n/a	chr6:29720987-29721003
36	RCOR1	chr6:29720327-29721498	Hela-S3	cervix:	n/a	n/a
37	SMC3	chr6:29720808-29721183	HepG2	liver:	n/a	chr6:29720978-29720986
38	POLR2A	chr6:29720548-29721011	A549	lung:	n/a	n/a
39	POLR2A	chr6:29720012-29721177	Hela-S3	cervix:	n/a	n/a
40	MYC	chr6:29720200-29721175	K562	blood:	n/a	chr6:29720727-29720737
41	POLR2A	chr6:29719941-29721141	K562	blood:	n/a	n/a
42	UBTF	chr6:29720190-29721197	K562	blood:	n/a	n/a
43	RAD21	chr6:29720422-29721371	HCT-116	colon:	n/a	chr6:29720801-29720815
44	SP1	chr6:29720603-29721139	H1-hESC	embryonic stem cell:	n/a	chr6:29720889-29720900 chr6:29720889-29720901 chr6:29720890-29720899 chr6:29720889-29720901 chr6:29720727-29720737 chr6:29720726-29720738
45	CTCF	chr6:29720746-29721175	ProgFib	skin:	n/a	chr6:29720979-29720988 chr6:29721022-29721038 chr6:29720801-29720814
46	HDAC2	chr6:29720222-29721192	MCF-7	breast:	n/a	chr6:29720419-29720428
47	TCF7L2	chr6:29720505-29721098	MCF-7	breast:	n/a	n/a
48	MXI1	chr6:29720521-29721279	IMR90	lung:	n/a	n/a
49	NFIC	chr6:29720675-29721189	HepG2	liver:	n/a	n/a
50	SMC3	chr6:29720326-29721227	Hela-S3	cervix:	n/a	chr6:29720978-29720986

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29720802-29720852	SK-N-MC	brain:	n/a
2	chr6:29720802-29720852	GM12891	blood:	n/a
3	chr6:29720802-29720852	H1-hESC	embryonic stem cell:	embryo
4	chr6:29720802-29720852	PrEC	prostate:	n/a
5	chr6:29720802-29720852	GM06990	blood:	n/a
6	chr6:29720802-29720852	AG04449	skin:	fetal
7	chr6:29720802-29720852	U87	brain:	n/a
8	chr6:29720802-29720852	HEK293	kidney:	embryo
9	chr6:29720802-29720852	T-47D	breast:	n/a
10	chr6:29720802-29720852	Jurkat	blood:	n/a
11	chr6:29720802-29720852	MCF10A-Er-Src	breast:	n/a
12	chr6:29720802-29720852	HCPEpiC	choroid plexus:	n/a
13	chr6:29720802-29720852	MCF-7	breast:	n/a
14	chr6:29720802-29720852	HUVEC	blood vessel:	n/a
15	chr6:29720802-29720852	PFSK-1	brain:	n/a
16	chr6:29720802-29720852	HepG2	liver:	n/a
17	chr6:29720802-29720852	PANC-1	pancreas:	n/a
18	chr6:29720802-29720852	HCM	heart:	n/a
19	chr6:29720802-29720852	HEEpiC	esophagus:	n/a
20	chr6:29720802-29720852	K562	blood:	n/a
21	chr6:29720802-29720852	AoSMC	blood vessel:	n/a
22	chr6:29720802-29720852	AG04450	lung:	fetal
23	chr6:29720802-29720852	NHBE	bronchial:	n/a
24	chr6:29720802-29720852	AG09319	gingival:	n/a
25	chr6:29720802-29720852	HCT-116	colon:	n/a
26	chr6:29720802-29720852	ECC-1	luminal epithelium:	n/a
27	chr6:29720802-29720852	GM12892	blood:	n/a
28	chr6:29720802-29720852	RPTEC	kidney:	n/a
29	chr6:29720802-29720852	AG10803	skin:	n/a
30	chr6:29720802-29720852	AG09309	skin:	n/a
31	chr6:29720802-29720852	BJ	skin:	n/a
32	chr6:29720802-29720852	CMK	blood:	n/a
33	chr6:29720802-29720852	GM12878	blood:	n/a
34	chr6:29720802-29720852	NB4	blood:	n/a
35	chr6:29720802-29720852	HAEpiC	amniotic membrane:	n/a
36	chr6:29720802-29720852	HRE	kidney:	n/a
37	chr6:29720802-29720852	BE2_C	brain:	n/a
38	chr6:29720802-29720852	SKMC	muscle:	n/a
39	chr6:29720802-29720852	Hepatocyte	liver:	n/a
40	chr6:29720802-29720852	SK-N-SH_RA	brain:	n/a
41	chr6:29720802-29720852	NHDF-neo	bronchial:	n/a
42	chr6:29720802-29720852	NH-A	brain:	n/a
43	chr6:29720802-29720852	HRCEpiC	kidney:	n/a
44	chr6:29720802-29720852	HL-60	blood:	n/a
45	chr6:29720802-29720852	A549	lung:	n/a
46	chr6:29720802-29720852	HRPEpiC	eye:	n/a
47	chr6:29720802-29720852	SAEC	small airway:	n/a
48	chr6:29720802-29720852	ProgFib	skin:	n/a
49	chr6:29720802-29720852	ovcar-3	ovarian:	n/a
50	chr6:29720802-29720852	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41408153..41408690-chr6:29720220..29720836,2	Hela-S3	cervix:
2	chr15:78730375..78731065-chr6:29720140..29720963,2	Hela-S3	cervix:
3	chr6:29719431..29722230-chr6:29728984..29731849,2	MCF-7	breast:
4	chr6:29720457..29721452-chr8:47957248..47957748,2	MCF-7	breast:
5	chr6:29720312..29720950-chr6:31164808..31165629,2	Hela-S3	cervix:
6	chr6:29709930..29711722-chr6:29720449..29722464,2	K562	blood:
7	chr6:29705500..29706511-chr6:29720185..29721437,3	K562	blood:
8	chr6:29716316..29718223-chr6:29719581..29721724,2	MCF-7	breast:
9	chr5:126448355..126449191-chr6:29720417..29721209,2	MCF-7	breast:

Variant related genes	Relation type
HLA-F-AS1	TF binding region
MICE	TF binding region
ENSG00000272236	TF binding region
IFITM4P	TF binding region
HLA-F-AS1	CpG island
MICE	CpG island
IFITM4P	CpG island
ENSG00000272236	CpG island
ENSG00000206344	Chromatin interaction
ENSG00000128908	Chromatin interaction
ENSG00000199290	Chromatin interaction
ENSG00000136381	Chromatin interaction
ENSG00000214922	Chromatin interaction
ENSG00000273340	Chromatin interaction
ENSG00000270896	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73401939	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20940	chr6:29653954-29923410	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv428475	chr6:29659525-29763392	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv428139	chr6:29659525-29892317	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv508397	chr6:29663132-29761448	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1821077	chr6:29670915-29726207	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv1794141	chr6:29670915-29765814	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv10809	chr6:29692573-29794119	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv883532	chr6:29703262-29814963	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv883534	chr6:29708222-29724310	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	esv3441842	chr6:29715749-29942950	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 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	chr6:29717800-29721200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:29719200-29721200	Active TSS	GM12878-XiMat	blood
3	chr6:29719400-29721200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:29719400-29721200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:29719600-29721000	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr6:29719600-29721200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
7	chr6:29719600-29721200	Active TSS	NHLF	lung
8	chr6:29719600-29721400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:29719600-29721400	Active TSS	HSMM	muscle
10	chr6:29719600-29721400	Active TSS	NHDF-Ad	bronchial
11	chr6:29719600-29721800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:29719800-29721000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr6:29719800-29721000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:29719800-29721000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr6:29719800-29721000	Active TSS	Aorta	Aorta
16	chr6:29719800-29721200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:29719800-29721200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:29719800-29721200	Active TSS	Colonic Mucosa	Colon
19	chr6:29719800-29721200	Active TSS	Fetal Lung	lung
20	chr6:29719800-29721200	Active TSS	Psoas Muscle	Psoas
21	chr6:29719800-29721400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr6:29719800-29721600	Active TSS	Brain Cingulate Gyrus	brain
23	chr6:29719800-29721600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:29719800-29721600	Active TSS	HSMMtube	muscle
25	chr6:29720000-29721000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:29720000-29721000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:29720000-29721000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr6:29720000-29721000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr6:29720000-29721000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr6:29720000-29721000	Active TSS	Brain Angular Gyrus	brain
31	chr6:29720000-29721000	Flanking Active TSS	Placenta	Placenta
32	chr6:29720000-29721000	Bivalent/Poised TSS	Fetal Thymus	thymus
33	chr6:29720000-29721000	Bivalent/Poised TSS	HepG2	liver
34	chr6:29720000-29721200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr6:29720000-29721200	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr6:29720000-29721200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr6:29720000-29721200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:29720000-29721200	Active TSS	Brain Anterior Caudate	brain
39	chr6:29720000-29721200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
40	chr6:29720000-29721200	Active TSS	Colon Smooth Muscle	Colon
41	chr6:29720000-29721200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr6:29720000-29721200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr6:29720000-29721200	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr6:29720000-29721200	Active TSS	Left Ventricle	heart
45	chr6:29720000-29721200	Active TSS	Ovary	ovary
46	chr6:29720000-29721200	Active TSS	Right Atrium	heart
47	chr6:29720000-29721200	Bivalent/Poised TSS	Thymus	Thymus
48	chr6:29720000-29721200	Active TSS	A549	lung
49	chr6:29720000-29721200	Active TSS	NH-A	brain
50	chr6:29720000-29721200	Active TSS	Osteobl	bone

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