Variant report

Variant	rs61356961
Chromosome Location	chr6:30457205-30457206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:384)
CpG islands
(count:61)
Chromatin interactive
region (count:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr6:30456820-30457958	K562	blood:	n/a	n/a
2	USF1	chr6:30456974-30457363	A549	lung:	n/a	chr6:30457149-30457160
3	RFX5	chr6:30456636-30458200	K562	blood:	n/a	chr6:30457227-30457236
4	POLR2A	chr6:30456972-30458172	MCF-7	breast:	n/a	n/a
5	POLR2A	chr6:30456891-30457613	Hela-S3	cervix:	n/a	n/a
6	NFIC	chr6:30456940-30457499	GM12878	blood:	n/a	n/a
7	RUNX3	chr6:30456811-30457548	GM12878	blood:	n/a	n/a
8	USF1	chr6:30456946-30457370	H1-hESC	embryonic stem cell:	n/a	chr6:30457149-30457160
9	WRNIP1	chr6:30456998-30457481	GM12878	blood:	n/a	n/a
10	NFIC	chr6:30456951-30457517	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:30456931-30458172	Raji	blood:	n/a	n/a
12	USF1	chr6:30456806-30457550	HCT-116	colon:	n/a	chr6:30457149-30457160
13	POLR2A	chr6:30457046-30457474	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr6:30456961-30458199	HUVEC	blood vessel:	n/a	n/a
15	E2F4	chr6:30457044-30457331	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr6:30456900-30464013	GM12892	blood:	n/a	n/a
17	CREB1	chr6:30456901-30457523	A549	lung:	n/a	n/a
18	BHLHE40	chr6:30456944-30457424	GM12878	blood:	n/a	n/a
19	RCOR1	chr6:30456877-30457421	GM12878	blood:	n/a	n/a
20	IRF1	chr6:30457000-30457430	K562	blood:	n/a	n/a
21	NFE2	chr6:30457016-30457340	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:30457090-30457515	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr6:30456706-30458042	HepG2	liver:	n/a	n/a
24	CREB1	chr6:30456884-30457462	ECC-1	luminal epithelium:	n/a	n/a
25	MYC	chr6:30457178-30457225	HUVEC	blood vessel:	n/a	n/a
26	MAX	chr6:30456977-30457321	K562	blood:	n/a	n/a
27	USF1	chr6:30457034-30457254	A549	lung:	n/a	chr6:30457149-30457160
28	ELF1	chr6:30456847-30458137	GM12878	blood:	n/a	n/a
29	IRF3	chr6:30457050-30457402	GM12878	blood:	n/a	n/a
30	SPI1	chr6:30456898-30457438	HL-60	blood:	n/a	n/a
31	MAFF	chr6:30456936-30457302	K562	blood:	n/a	n/a
32	KAP1	chr6:30456875-30457655	HEK293	kidney:	n/a	chr6:30457222-30457230
33	MAX	chr6:30456981-30458431	MCF-7	breast:	n/a	n/a
34	IRF4	chr6:30456800-30457480	GM12878	blood:	n/a	n/a
35	STAT1	chr6:30457033-30457473	GM12878	blood:	n/a	chr6:30457108-30457119
36	USF1	chr6:30456977-30457426	ECC-1	luminal epithelium:	n/a	chr6:30457149-30457160
37	POLR2A	chr6:30456904-30458335	NB4	blood:	n/a	n/a
38	ELK1	chr6:30457059-30457453	GM12878	blood:	n/a	n/a
39	POU2F2	chr6:30457077-30457542	GM12878	blood:	n/a	n/a
40	PML	chr6:30457028-30457526	MCF-7	breast:	n/a	chr6:30457222-30457230
41	POLR2A	chr6:30456966-30458024	MCF-7	breast:	n/a	n/a
42	POLR2A	chr6:30457150-30457385	HepG2	liver:	n/a	n/a
43	POLR2A	chr6:30456917-30458391	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr6:30456929-30458172	K562	blood:	n/a	n/a
45	MXI1	chr6:30457180-30457377	K562	blood:	n/a	n/a
46	CHD2	chr6:30457127-30457314	HepG2	liver:	n/a	n/a
47	CHD2	chr6:30456985-30457922	GM12878	blood:	n/a	n/a
48	TAF1	chr6:30457073-30457354	H1-neurons	neurons:	n/a	n/a
49	IRF4	chr6:30456837-30457330	GM12878	blood:	n/a	n/a
50	POLR2A	chr6:30456912-30457681	U87	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30457182-30457232	BJ	skin:	n/a
2	chr6:30457182-30457232	SK-N-SH_RA	brain:	n/a
3	chr6:30457182-30457232	SKMC	muscle:	n/a
4	chr6:30457182-30457232	HMEC	breast:	n/a
5	chr6:30457182-30457232	RPTEC	kidney:	n/a
6	chr6:30457182-30457232	HL-60	blood:	n/a
7	chr6:30457182-30457232	Hela-S3	cervix:	n/a
8	chr6:30457182-30457232	NB4	blood:	n/a
9	chr6:30457182-30457232	CMK	blood:	n/a
10	chr6:30457182-30457232	NHDF-neo	bronchial:	n/a
11	chr6:30457182-30457232	ECC-1	luminal epithelium:	n/a
12	chr6:30457182-30457232	PANC-1	pancreas:	n/a
13	chr6:30457182-30457232	HPAEpiC	pulmonary alveolar:	n/a
14	chr6:30457182-30457232	PrEC	prostate:	n/a
15	chr6:30457182-30457232	HNPCEpiC	eye:	n/a
16	chr6:30457182-30457232	BE2_C	brain:	n/a
17	chr6:30457182-30457232	PFSK-1	brain:	n/a
18	chr6:30457182-30457232	GM19239	blood:	n/a
19	chr6:30457182-30457232	T-47D	breast:	n/a
20	chr6:30457182-30457232	SAEC	small airway:	n/a
21	chr6:30457182-30457232	MCF-7	breast:	n/a
22	chr6:30457182-30457232	NHBE	bronchial:	n/a
23	chr6:30457182-30457232	Hepatocyte	liver:	n/a
24	chr6:30457182-30457232	HCM	heart:	n/a
25	chr6:30457182-30457232	HRCEpiC	kidney:	n/a
26	chr6:30457182-30457232	K562	blood:	n/a
27	chr6:30457182-30457232	GM12891	blood:	n/a
28	chr6:30457182-30457232	HCPEpiC	choroid plexus:	n/a
29	chr6:30457182-30457232	AG04449	skin:	fetal
30	chr6:30457182-30457232	Jurkat	blood:	n/a
31	chr6:30457182-30457232	HAEpiC	amniotic membrane:	n/a
32	chr6:30457182-30457232	AG10803	skin:	n/a
33	chr6:30457182-30457232	HepG2	liver:	n/a
34	chr6:30457182-30457232	MCF10A-Er-Src	breast:	n/a
35	chr6:30457182-30457232	HCF	heart:	n/a
36	chr6:30457182-30457232	LNCaP	prostate:	n/a
37	chr6:30457182-30457232	NH-A	brain:	n/a
38	chr6:30457182-30457232	ovcar-3	ovarian:	n/a
39	chr6:30457182-30457232	GM12892	blood:	n/a
40	chr6:30457182-30457232	U87	brain:	n/a
41	chr6:30457182-30457232	ProgFib	skin:	n/a
42	chr6:30457182-30457232	HRE	kidney:	n/a
43	chr6:30457182-30457232	H1-hESC	embryonic stem cell:	embryo
44	chr6:30457182-30457232	AG09319	gingival:	n/a
45	chr6:30457182-30457232	SK-N-MC	brain:	n/a
46	chr6:30457182-30457232	HUVEC	blood vessel:	n/a
47	chr6:30457182-30457232	HIPEpiC	eye:	n/a
48	chr6:30457182-30457232	A549	lung:	n/a
49	chr6:30457182-30457232	AG09309	skin:	n/a
50	chr6:30457182-30457232	AG04450	lung:	fetal

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30454054..30458400-chr6:30522321..30525971,4	K562	blood:
2	chr14:104181282..104181917-chr6:30457138..30457957,2	Hela-S3	cervix:
3	chr6:30455567..30461073-chr6:30522731..30527408,12	MCF-7	breast:
4	chr12:1799823..1800792-chr6:30456838..30457762,2	Hela-S3	cervix:
5	chr6:30450075..30454964-chr6:30456336..30460057,8	MCF-7	breast:
6	chr6:30451337..30455149-chr6:30456477..30458768,3	MCF-7	breast:
7	chr6:30455790..30458568-chr6:30687436..30691942,4	MCF-7	breast:
8	chr12:120729027..120729956-chr6:30456819..30458041,3	Hela-S3	cervix:
9	chr6:30455992..30459496-chr6:30536691..30539449,3	K562	blood:
10	chr6:30455700..30459615-chr6:30482438..30485842,11	MCF-7	breast:
11	chr6:30456864..30458560-chr6:30640505..30642217,2	K562	blood:
12	chr6:30451366..30455453-chr6:30455599..30459533,6	K562	blood:
13	chr6:30455560..30457980-chr6:30688126..30690528,2	K562	blood:
14	chr6:30450826..30454342-chr6:30455231..30458641,4	K562	blood:
15	chr6:30456745..30459180-chr6:30523952..30525674,3	MCF-7	breast:
16	chr6:30452366..30463564-chr6:30577885..30586736,19	MCF-7	breast:
17	chr5:151151224..151151883-chr6:30456892..30457555,2	Hela-S3	cervix:
18	chr6:30455629..30458030-chr6:30852314..30855015,2	K562	blood:
19	chr6:29909978..29910905-chr6:30457122..30457690,2	HCT-116	colon:
20	chr6:30455623..30460789-chr6:30582748..30585313,6	MCF-7	breast:
21	chr6:30456365..30459515-chr6:30480416..30486332,6	MCF-7	breast:
22	chr6:30457060..30459448-chr6:30640175..30642005,2	K562	blood:
23	chr6:30456342..30459390-chr6:30850533..30854331,4	MCF-7	breast:
24	chr15:57998806..57999379-chr6:30457149..30457654,2	Hela-S3	cervix:
25	chr6:30455872..30460443-chr6:30482529..30486009,9	K562	blood:
26	chr19:5690151..5690787-chr6:30456813..30457608,2	NB4	blood:
27	chr6:30450929..30459545-chr6:30516289..30528141,20	K562	blood:
28	chr6:30455822..30466395-chr6:30579571..30587610,27	K562	blood:
29	chr6:30456489..30460489-chr6:30579571..30585514,7	K562	blood:
30	chr6:30456233..30458603-chr6:30513714..30516752,3	MCF-7	breast:
31	chr6:30455831..30458376-chr6:30599698..30601458,2	MCF-7	breast:
32	chr6:30455852..30458015-chr6:30684660..30687891,3	K562	blood:
33	chr6:30455788..30457645-chr6:30653333..30655352,2	MCF-7	breast:
34	chr6:30456890..30458918-chr6:30614785..30617141,2	MCF-7	breast:
35	chr6:30456467..30458810-chr6:30482542..30485985,4	K562	blood:

No data

Variant related genes	Relation type
HLA-E	TF binding region
HLA-E	CpG island
ENSG00000266183	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000235781	Chromatin interaction
ENSG00000130255	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000206503	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000255529	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000145907	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000236603	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000006831	Chromatin interaction
ENSG00000227766	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000228415	Chromatin interaction
ENSG00000204576	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11548296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11552605	1.00[EUR][1000 genomes]
rs58980373	1.00[ASN][1000 genomes]
rs60716469	1.00[ASN][1000 genomes]
rs60791005	1.00[ASN][1000 genomes]
rs61744913	0.87[EUR][1000 genomes]
rs61748586	0.87[EUR][1000 genomes]
rs6902121	1.00[EUR][1000 genomes]
rs6902544	1.00[EUR][1000 genomes]
rs6918685	1.00[EUR][1000 genomes]
rs6927597	1.00[ASN][1000 genomes]
rs6927603	1.00[ASN][1000 genomes]
rs6930075	1.00[EUR][1000 genomes]
rs73431018	1.00[ASN][1000 genomes]
rs73431081	1.00[ASN][1000 genomes]
rs73433105	1.00[ASN][1000 genomes]
rs73433115	1.00[ASN][1000 genomes]
rs7754598	1.00[ASN][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	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	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
6	nsv884076	chr6:30434566-30483919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
7	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	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
9	nsv970103	chr6:30452455-30460072	Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
10	nsv884081	chr6:30455920-30472772	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
11	nsv884082	chr6:30455920-30475431	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 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	chr6:30456400-30457600	Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr6:30456600-30457400	Active TSS	Primary hematopoietic stem cells	blood
3	chr6:30456800-30457400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:30456800-30457400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:30456800-30457400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:30456800-30457600	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr6:30456800-30457600	Active TSS	Rectal Smooth Muscle	rectum
8	chr6:30456800-30457600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
9	chr6:30456800-30457600	Active TSS	Monocytes-CD14+_RO01746	blood
10	chr6:30456800-30457800	Bivalent/Poised TSS	HepG2	liver
11	chr6:30456800-30458000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr6:30456800-30458000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:30456800-30458000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:30456800-30458000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr6:30456800-30458000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:30456800-30458000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr6:30456800-30458000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:30456800-30458000	Active TSS	Muscle Satellite Cultured Cells	--
19	chr6:30456800-30458000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:30456800-30458000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:30456800-30458000	Active TSS	Liver	Liver
22	chr6:30456800-30458000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:30456800-30458000	Active TSS	Colonic Mucosa	Colon
24	chr6:30456800-30458000	Active TSS	Duodenum Mucosa	Duodenum
25	chr6:30456800-30458000	Active TSS	Pancreas	Pancrea
26	chr6:30456800-30458000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr6:30456800-30458000	Active TSS	Right Atrium	heart
28	chr6:30456800-30458000	Active TSS	Right Ventricle	heart
29	chr6:30456800-30458000	Active TSS	Hela-S3	cervix
30	chr6:30456800-30458000	Active TSS	NHEK	skin
31	chr6:30456800-30458000	Active TSS	NHLF	lung
32	chr6:30456800-30458000	Active TSS	Osteobl	bone
33	chr6:30456800-30458200	Active TSS	H9 Cell Line	embryonic stem cell
34	chr6:30456800-30458200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:30456800-30458200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr6:30456800-30458200	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr6:30456800-30458200	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr6:30456800-30458200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr6:30456800-30458200	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr6:30456800-30458200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:30456800-30458200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:30456800-30458200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr6:30456800-30458200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:30456800-30458200	Active TSS	Primary T cells from cord blood	blood
45	chr6:30456800-30458200	Active TSS	Brain Anterior Caudate	brain
46	chr6:30456800-30458200	Active TSS	Brain Hippocampus Middle	brain
47	chr6:30456800-30458200	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr6:30456800-30458200	Active TSS	Fetal Intestine Large	intestine
49	chr6:30456800-30458200	Active TSS	Fetal Kidney	kidney
50	chr6:30456800-30458200	Active TSS	Fetal Lung	lung

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