Variant report

Variant	rs7757145
Chromosome Location	chr6:30523256-30523257
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	POLR2A	chr6:30523246-30523649	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr6:30523173-30525710	K562	blood:	n/a	n/a
3	SIN3AK20	chr6:30522717-30525719	K562	blood:	n/a	n/a
4	MYC	chr6:30523180-30525640	K562	blood:	n/a	chr6:30523881-30523891 chr6:30524019-30524029 chr6:30523811-30523821 chr6:30524325-30524335 chr6:30523315-30523325 chr6:30524403-30524413 chr6:30523878-30523888 chr6:30523991-30524002
5	REST	chr6:30523118-30525819	H1-neurons	neurons:	n/a	chr6:30524500-30524514 chr6:30524400-30524413
6	POLR2A	chr6:30523221-30525640	K562	blood:	n/a	n/a
7	MAX	chr6:30523243-30525721	HCT-116	colon:	n/a	chr6:30523881-30523891 chr6:30524019-30524029 chr6:30523811-30523821 chr6:30524325-30524335 chr6:30523315-30523325 chr6:30524403-30524413 chr6:30523878-30523888 chr6:30523991-30524002
8	ZBTB7A	chr6:30523081-30524844	K562	blood:	n/a	chr6:30523311-30523320
9	CBX3	chr6:30523132-30525730	K562	blood:	n/a	n/a
10	CTCF	chr6:30523240-30523390	GM12864	blood:	n/a	n/a
11	YY1	chr6:30523138-30523694	K562	blood:	n/a	n/a
12	GABPA	chr6:30523101-30525460	K562	blood:	n/a	chr6:30525047-30525054 chr6:30523877-30523886 chr6:30525332-30525346
13	CTCF	chr6:30523200-30523350	HCM	heart:	n/a	n/a
14	JUND	chr6:30522891-30525890	SK-N-SH	brain:	n/a	chr6:30524560-30524571 chr6:30524098-30524107
15	MAX	chr6:30523089-30525808	HCT-116	colon:	n/a	chr6:30523881-30523891 chr6:30524019-30524029 chr6:30523811-30523821 chr6:30524325-30524335 chr6:30523315-30523325 chr6:30524403-30524413 chr6:30523878-30523888 chr6:30523991-30524002
16	MAZ	chr6:30523045-30525690	K562	blood:	n/a	chr6:30523881-30523891 chr6:30524019-30524029 chr6:30523811-30523821 chr6:30524325-30524335 chr6:30523315-30523325 chr6:30524403-30524413 chr6:30523878-30523888 chr6:30523991-30524002
17	MAX	chr6:30523129-30525703	HepG2	liver:	n/a	chr6:30523881-30523891 chr6:30524019-30524029 chr6:30523811-30523821 chr6:30524325-30524335 chr6:30523315-30523325 chr6:30524403-30524413 chr6:30523878-30523888 chr6:30523991-30524002
18	POLR2A	chr6:30523025-30525805	GM12892	blood:	n/a	n/a
19	CTCF	chr6:30523180-30523330	AG09319	gingival:	n/a	n/a
20	POLR2A	chr6:30523066-30526572	SK-N-MC	brain:	n/a	n/a
21	SMARCB1	chr6:30523130-30525395	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr6:30523243-30525564	IMR90	lung:	n/a	n/a
23	ELF1	chr6:30523083-30525374	K562	blood:	n/a	chr6:30524251-30524260 chr6:30524000-30524012 chr6:30523281-30523292 chr6:30524400-30524412 chr6:30523281-30523292 chr6:30525042-30525051 chr6:30524133-30524142 chr6:30523282-30523291
24	MAX	chr6:30523072-30525666	K562	blood:	n/a	chr6:30523881-30523891 chr6:30524019-30524029 chr6:30523811-30523821 chr6:30524325-30524335 chr6:30523315-30523325 chr6:30524403-30524413 chr6:30523878-30523888 chr6:30523991-30524002
25	ELF1	chr6:30522913-30525589	MCF-7	breast:	n/a	chr6:30524251-30524260 chr6:30524000-30524012 chr6:30523281-30523292 chr6:30524400-30524412 chr6:30523281-30523292 chr6:30525042-30525051 chr6:30524133-30524142 chr6:30523282-30523291
26	ELF1	chr6:30523036-30525431	GM12878	blood:	n/a	chr6:30524251-30524260 chr6:30524000-30524012 chr6:30523281-30523292 chr6:30524400-30524412 chr6:30523281-30523292 chr6:30525042-30525051 chr6:30524133-30524142 chr6:30523282-30523291
27	TEAD4	chr6:30522877-30525792	K562	blood:	n/a	n/a
28	MAX	chr6:30523131-30525701	SK-N-SH	brain:	n/a	chr6:30523881-30523891 chr6:30524019-30524029 chr6:30523811-30523821 chr6:30524325-30524335 chr6:30523315-30523325 chr6:30524403-30524413 chr6:30523878-30523888 chr6:30523991-30524002
29	NR2F2	chr6:30522774-30525670	K562	blood:	n/a	n/a
30	TAF1	chr6:30523011-30523615	H1-hESC	embryonic stem cell:	n/a	n/a
31	HEY1	chr6:30523242-30523712	K562	blood:	n/a	n/a
32	CREB1	chr6:30523205-30525494	H1-hESC	embryonic stem cell:	n/a	chr6:30524096-30524109
33	MAX	chr6:30523200-30525542	SK-N-SH	brain:	n/a	chr6:30523881-30523891 chr6:30524019-30524029 chr6:30523811-30523821 chr6:30524325-30524335 chr6:30523315-30523325 chr6:30524403-30524413 chr6:30523878-30523888 chr6:30523991-30524002
34	ZBTB7A	chr6:30523206-30525616	ECC-1	luminal epithelium:	n/a	chr6:30523311-30523320
35	POLR2A	chr6:30522661-30525673	K562	blood:	n/a	n/a
36	POLR2A	chr6:30523054-30525802	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:30523206-30525599	H1-neurons	neurons:	n/a	n/a
38	MAX	chr6:30523247-30525449	K562	blood:	n/a	chr6:30523881-30523891 chr6:30524019-30524029 chr6:30523811-30523821 chr6:30524325-30524335 chr6:30523315-30523325 chr6:30524403-30524413 chr6:30523878-30523888 chr6:30523991-30524002
39	POLR2A	chr6:30522757-30525756	K562	blood:	n/a	n/a
40	POLR2A	chr6:30522686-30525770	K562	blood:	n/a	n/a
41	POLR2A	chr6:30523070-30523342	HepG2	liver:	n/a	n/a
42	PML	chr6:30523016-30525713	K562	blood:	n/a	chr6:30525582-30525590
43	MAX	chr6:30523049-30525714	HepG2	liver:	n/a	chr6:30523881-30523891 chr6:30524019-30524029 chr6:30523811-30523821 chr6:30524325-30524335 chr6:30523315-30523325 chr6:30524403-30524413 chr6:30523878-30523888 chr6:30523991-30524002
44	ELF1	chr6:30523030-30525487	GM12878	blood:	n/a	chr6:30524251-30524260 chr6:30524000-30524012 chr6:30523281-30523292 chr6:30524400-30524412 chr6:30523281-30523292 chr6:30525042-30525051 chr6:30524133-30524142 chr6:30523282-30523291
45	POLR2A	chr6:30522986-30525563	HUVEC	blood vessel:	n/a	n/a
46	CREB1	chr6:30523206-30525458	H1-hESC	embryonic stem cell:	n/a	chr6:30524096-30524109
47	YY1	chr6:30523192-30525431	HepG2	liver:	n/a	chr6:30524133-30524142 chr6:30524245-30524259 chr6:30524388-30524397 chr6:30524389-30524400 chr6:30523877-30523886 chr6:30524400-30524414
48	ELF1	chr6:30523052-30525412	HepG2	liver:	n/a	chr6:30524251-30524260 chr6:30524000-30524012 chr6:30523281-30523292 chr6:30524400-30524412 chr6:30523281-30523292 chr6:30525042-30525051 chr6:30524133-30524142 chr6:30523282-30523291
49	CHD1	chr6:30522473-30525942	IMR90	lung:	n/a	n/a
50	SIN3AK20	chr6:30523027-30525763	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30523215-30523265	HIPEpiC	eye:	n/a
2	chr6:30523215-30523265	SK-N-MC	brain:	n/a
3	chr6:30523215-30523265	HRPEpiC	eye:	n/a
4	chr6:30523242-30523292	Hepatocyte	liver:	n/a
5	chr6:30523215-30523265	LNCaP	prostate:	n/a
6	chr6:30523242-30523292	CMK	blood:	n/a
7	chr6:30523215-30523265	HepG2	liver:	n/a
8	chr6:30523242-30523292	AG04449	skin:	fetal
9	chr6:30523215-30523265	NHDF-neo	bronchial:	n/a
10	chr6:30523242-30523292	GM12891	blood:	n/a
11	chr6:30523215-30523265	AG04449	skin:	fetal
12	chr6:30523215-30523265	HEEpiC	esophagus:	n/a
13	chr6:30523215-30523265	PFSK-1	brain:	n/a
14	chr6:30523215-30523265	HNPCEpiC	eye:	n/a
15	chr6:30523242-30523292	HMEC	breast:	n/a
16	chr6:30523242-30523292	HIPEpiC	eye:	n/a
17	chr6:30523242-30523292	GM06990	blood:	n/a
18	chr6:30523242-30523292	ovcar-3	ovarian:	n/a
19	chr6:30523215-30523265	PrEC	prostate:	n/a
20	chr6:30523215-30523265	ProgFib	skin:	n/a
21	chr6:30523242-30523292	HRPEpiC	eye:	n/a
22	chr6:30523215-30523265	HAEpiC	amniotic membrane:	n/a
23	chr6:30523242-30523292	T-47D	breast:	n/a
24	chr6:30523215-30523265	NHBE	bronchial:	n/a
25	chr6:30523242-30523292	HEK293	kidney:	embryo
26	chr6:30523215-30523265	A549	lung:	n/a
27	chr6:30523242-30523292	AG04450	lung:	fetal
28	chr6:30523215-30523265	AG04450	lung:	fetal
29	chr6:30523242-30523292	HPAEpiC	pulmonary alveolar:	n/a
30	chr6:30523242-30523292	GM12892	blood:	n/a
31	chr6:30523215-30523265	HCPEpiC	choroid plexus:	n/a
32	chr6:30523242-30523292	HEEpiC	esophagus:	n/a
33	chr6:30523215-30523265	HCF	heart:	n/a
34	chr6:30523242-30523292	ECC-1	luminal epithelium:	n/a
35	chr6:30523215-30523265	GM12891	blood:	n/a
36	chr6:30523242-30523292	NHDF-neo	bronchial:	n/a
37	chr6:30523215-30523265	MCF-7	breast:	n/a
38	chr6:30523215-30523265	CMK	blood:	n/a
39	chr6:30523215-30523265	ovcar-3	ovarian:	n/a
40	chr6:30523242-30523292	MCF-7	breast:	n/a
41	chr6:30523242-30523292	PANC-1	pancreas:	n/a
42	chr6:30523242-30523292	BJ	skin:	n/a
43	chr6:30523242-30523292	HAEpiC	amniotic membrane:	n/a
44	chr6:30523215-30523265	AG09309	skin:	n/a
45	chr6:30523215-30523265	Caco-2	colon:	n/a
46	chr6:30523242-30523292	NB4	blood:	n/a
47	chr6:30523242-30523292	HL-60	blood:	n/a
48	chr6:30523242-30523292	H1-hESC	embryonic stem cell:	embryo
49	chr6:30523242-30523292	HepG2	liver:	n/a
50	chr6:30523242-30523292	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30481563..30487862-chr6:30521673..30526487,12	K562	blood:
2	chr6:30522893..30525762-chr6:30556853..30560646,4	MCF-7	breast:
3	chr6:30032984..30034592-chr6:30523078..30524933,2	K562	blood:
4	chr6:30523025..30525668-chr6:30880813..30884106,3	K562	blood:
5	chr6:30522474..30526619-chr6:30688958..30690909,4	MCF-7	breast:
6	chr6:30455567..30461073-chr6:30522731..30527408,12	MCF-7	breast:
7	chr6:30523098..30526363-chr6:30653409..30656727,4	MCF-7	breast:
8	chr6:30522151..30525852-chr6:30686505..30691954,11	K562	blood:
9	chr6:30521415..30525474-chr6:30613502..30616293,3	K562	blood:
10	chr6:30483908..30485878-chr6:30522837..30525858,6	K562	blood:
11	chr6:26204834..26207214-chr6:30523084..30526316,3	MCF-7	breast:
12	chr6:30521801..30526749-chr6:30651868..30656911,6	K562	blood:
13	chr6:30521879..30524871-chr6:30874411..30877273,3	K562	blood:
14	chr6:30454054..30458400-chr6:30522321..30525971,4	K562	blood:
15	chr6:30520810..30527475-chr6:30577152..30588201,32	MCF-7	breast:
16	chr6:30517868..30527565-chr6:30576812..30587078,24	MCF-7	breast:
17	chr6:30522669..30525149-chr6:30545524..30548867,3	MCF-7	breast:
18	chr6:30450929..30459545-chr6:30516289..30528141,20	K562	blood:
19	chr6:30523103..30525725-chr6:31587969..31589968,2	MCF-7	breast:
20	chr6:30521586..30526375-chr6:30710310..30712965,5	MCF-7	breast:
21	chr6:30522706..30525361-chr6:30686394..30690570,5	MCF-7	breast:

Variant related genes	Relation type
PRR3	TF binding region
GNL1	TF binding region
GNL1	CpG island
PRR3	CpG island
ENSG00000137411	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000213780	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000264731	Chromatin interaction
ENSG00000236603	Chromatin interaction
ENSG00000204619	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000235781	Chromatin interaction
ENSG00000272273	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17875374	1.00[ASN][1000 genomes]
rs3757335	1.00[ASN][1000 genomes]
rs4148249	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57357873	0.90[AFR][1000 genomes]
rs57529939	1.00[EUR][1000 genomes]
rs61414974	1.00[EUR][1000 genomes]
rs6913164	0.95[AFR][1000 genomes]
rs6927597	1.00[EUR][1000 genomes]
rs6927603	1.00[EUR][1000 genomes]
rs73432769	0.90[ASN][1000 genomes]
rs73433105	1.00[EUR][1000 genomes]
rs73433115	1.00[EUR][1000 genomes]
rs73433122	1.00[EUR][1000 genomes]
rs73433127	1.00[EUR][1000 genomes]
rs73433141	1.00[EUR][1000 genomes]
rs73433149	1.00[EUR][1000 genomes]
rs7751766	1.00[EUR][1000 genomes]
rs7774485	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer 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	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS 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	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	esv3442730	chr6:30522798-30525546	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 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	chr6:30522200-30524200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr6:30522400-30523400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:30522400-30525800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:30522600-30523400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr6:30522600-30523400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr6:30522600-30523400	Flanking Active TSS	HMEC	breast
7	chr6:30522600-30523400	Flanking Active TSS	NH-A	brain
8	chr6:30522600-30523600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:30522600-30523600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr6:30522600-30525600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:30522600-30525800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:30522600-30526000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:30522600-30526000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:30522800-30523400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:30522800-30523400	Flanking Active TSS	Fetal Brain Female	brain
16	chr6:30522800-30523400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr6:30522800-30523600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:30522800-30523600	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr6:30522800-30523600	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr6:30522800-30523600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr6:30522800-30523600	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr6:30522800-30523600	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr6:30522800-30523600	Flanking Active TSS	Spleen	Spleen
24	chr6:30522800-30523800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr6:30522800-30523800	Flanking Active TSS	Colonic Mucosa	Colon
26	chr6:30522800-30523800	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr6:30522800-30523800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr6:30522800-30523800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr6:30522800-30524000	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr6:30522800-30524000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:30522800-30524000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:30522800-30525600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:30522800-30525600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:30522800-30525800	Active TSS	Lung	lung
35	chr6:30522800-30526000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:30522800-30526000	Active TSS	H9 Cell Line	embryonic stem cell
37	chr6:30522800-30526000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:30522800-30526200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr6:30523000-30523400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
40	chr6:30523000-30523400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:30523000-30523400	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr6:30523000-30523400	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr6:30523000-30523400	Flanking Active TSS	Esophagus	oesophagus
44	chr6:30523000-30523400	Flanking Active TSS	Fetal Stomach	stomach
45	chr6:30523000-30523400	Flanking Active TSS	Pancreas	Pancrea
46	chr6:30523000-30523400	Flanking Active TSS	Stomach Mucosa	stomach
47	chr6:30523000-30523600	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr6:30523000-30523600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:30523000-30523600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:30523000-30523600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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