Variant report

Variant	rs6661817
Chromosome Location	chr1:114447034-114447035
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	MAX	chr1:114446705-114448409	K562	blood:	n/a	chr1:114447122-114447131
2	ZKSCAN1	chr1:114446919-114448391	Hela-S3	cervix:	n/a	n/a
3	E2F6	chr1:114446833-114448388	K562	blood:	n/a	n/a
4	MYC	chr1:114446758-114448458	Hela-S3	cervix:	n/a	chr1:114447122-114447131
5	MAFK	chr1:114447005-114448536	K562	blood:	n/a	n/a
6	CHD2	chr1:114446998-114448470	Hela-S3	cervix:	n/a	n/a
7	RCOR1	chr1:114446593-114448470	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr1:114446772-114448431	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr1:114446971-114448213	Hela-S3	cervix:	n/a	n/a
10	CCNT2	chr1:114446648-114448457	K562	blood:	n/a	n/a
11	PML	chr1:114446940-114448489	K562	blood:	n/a	n/a
12	POLR2A	chr1:114446629-114448290	IMR90	lung:	n/a	n/a
13	POLR2A	chr1:114447031-114448314	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:114446190-114448381	GM18505	blood:	n/a	n/a
15	EP300	chr1:114446732-114448152	GM12878	blood:	n/a	n/a
16	MAX	chr1:114445917-114448671	MCF-7	breast:	n/a	chr1:114448611-114448620 chr1:114447122-114447131
17	POLR2A	chr1:114446410-114448235	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:114446876-114448536	GM18526	blood:	n/a	n/a
19	POLR2A	chr1:114446984-114448445	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:114446816-114448383	ProgFib	skin:	n/a	n/a
21	MAX	chr1:114446759-114448244	HUVEC	blood vessel:	n/a	chr1:114447122-114447131
22	MXI1	chr1:114446060-114448767	SK-N-SH	brain:	n/a	n/a
23	SIN3A	chr1:114446851-114448628	H1-hESC	embryonic stem cell:	n/a	chr1:114447859-114447872 chr1:114447865-114447876
24	NR2F2	chr1:114446295-114448569	K562	blood:	n/a	n/a
25	POLR2A	chr1:114446618-114448634	SK-N-MC	brain:	n/a	n/a
26	CBX3	chr1:114446962-114448063	K562	blood:	n/a	n/a
27	RELA	chr1:114446398-114448269	GM18951	blood:	n/a	n/a
28	POLR2A	chr1:114446739-114448602	HL-60	blood:	n/a	n/a
29	JUND	chr1:114446322-114448706	MCF-7	breast:	n/a	chr1:114447429-114447440 chr1:114446687-114446701
30	POLR2A	chr1:114446923-114448220	H1-neurons	neurons:	n/a	n/a
31	MAX	chr1:114446748-114448488	Hela-S3	cervix:	n/a	chr1:114447122-114447131
32	E2F4	chr1:114446989-114448370	K562	blood:	n/a	n/a
33	GATA1	chr1:114446471-114448641	PBDE	blood:	n/a	chr1:114447173-114447182
34	TEAD4	chr1:114446690-114448277	ECC-1	luminal epithelium:	n/a	n/a
35	SP1	chr1:114447001-114448372	HCT-116	colon:	n/a	chr1:114447658-114447669 chr1:114447741-114447753 chr1:114447741-114447753 chr1:114447583-114447594 chr1:114447835-114447849 chr1:114447742-114447756 chr1:114447743-114447752 chr1:114447742-114447751
36	SIN3AK20	chr1:114446921-114448175	SK-N-SH	brain:	n/a	n/a
37	E2F6	chr1:114446992-114447253	K562	blood:	n/a	n/a
38	POU2F2	chr1:114446630-114448183	GM12878	blood:	n/a	chr1:114447888-114447900
39	CTCF	chr1:114446821-114448671	SK-N-SH	brain:	n/a	chr1:114447874-114447892 chr1:114447746-114447756 chr1:114447876-114447889 chr1:114447880-114447889 chr1:114447875-114447891 chr1:114448016-114448029
40	MAX	chr1:114446936-114448118	H1-hESC	embryonic stem cell:	n/a	chr1:114447122-114447131
41	MAX	chr1:114446888-114448211	A549	lung:	n/a	chr1:114447122-114447131
42	MXI1	chr1:114446427-114448753	IMR90	lung:	n/a	n/a
43	POLR2A	chr1:114446703-114448588	GM12892	blood:	n/a	n/a
44	ELK1	chr1:114447018-114448051	GM12878	blood:	n/a	n/a
45	SIN3AK20	chr1:114446937-114448365	HCT-116	colon:	n/a	n/a
46	MYC	chr1:114446706-114448040	MCF10A-Er-Src	breast:	n/a	chr1:114447122-114447131
47	RAD21	chr1:114446810-114448468	IMR90	lung:	n/a	chr1:114448017-114448030 chr1:114447872-114447891 chr1:114447996-114448008 chr1:114446812-114446826
48	MAFK	chr1:114446727-114448552	Hela-S3	cervix:	n/a	n/a
49	REST	chr1:114446713-114448515	H1-neurons	neurons:	n/a	chr1:114447859-114447872
50	MAX	chr1:114446598-114448548	K562	blood:	n/a	chr1:114447122-114447131

No.	Distal block	Cell Line	Cell type
1	chr1:114445859..114448805-chr17:42295421..42298283,3	MCF-7	breast:
2	chr1:114446008..114448199-chr1:114495493..114497584,2	MCF-7	breast:
3	chr1:113257309..113258998-chr1:114446539..114449479,2	K562	blood:
4	chr1:114352137..114357235-chr1:114445065..114452395,18	MCF-7	breast:
5	chr1:114446374..114449379-chr1:115298741..115300876,3	MCF-7	breast:
6	chr1:114299428..114302166-chr1:114446012..114448303,2	K562	blood:
7	chr1:114444168..114452207-chr1:114466193..114476714,61	K562	blood:
8	chr1:114353683..114357770-chr1:114446246..114449576,8	K562	blood:
9	chr1:114445068..114448942-chr1:115050232..115055017,4	MCF-7	breast:
10	chr1:114446165..114448738-chr1:115053730..115055909,2	MCF-7	breast:
11	chr1:114446144..114448333-chr19:16187175..16189942,2	MCF-7	breast:
12	chr1:114446824..114447452-chr2:85555114..85555887,2	Hela-S3	cervix:
13	chr1:114300712..114302958-chr1:114446093..114449659,3	MCF-7	breast:
14	chr1:114445771..114447458-chr9:132251917..132254040,2	MCF-7	breast:
15	chr1:114446802..114447352-chr11:64014342..64015191,2	Hela-S3	cervix:
16	chr1:114352306..114358140-chr1:114445806..114450844,18	MCF-7	breast:
17	chr1:114300422..114303875-chr1:114445198..114448512,7	MCF-7	breast:
18	chr1:114353620..114357151-chr1:114445438..114449458,6	K562	blood:
19	chr1:114300393..114302237-chr1:114446494..114449478,3	K562	blood:

Variant related genes	Relation type
DCLRE1B	TF binding region
AP4B1	TF binding region
ENSG00000108312	Chromatin interaction
ENSG00000261595	Chromatin interaction
ENSG00000256940	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000204054	Chromatin interaction
ENSG00000197323	Chromatin interaction
ENSG00000235527	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000173457	Chromatin interaction
ENSG00000116793	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000152291	Chromatin interaction
ENSG00000155367	Chromatin interaction
ENSG00000167460	Chromatin interaction
ENSG00000009307	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10745340	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776775	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10858022	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10858023	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11102701	0.81[AFR][1000 genomes]
rs11582409	0.85[YRI][hapmap]
rs11584821	0.85[YRI][hapmap]
rs1217382	0.87[YRI][hapmap]
rs1217391	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1217392	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17464525	1.00[YRI][hapmap]
rs17510162	0.85[YRI][hapmap]
rs3765598	0.85[YRI][hapmap]
rs3789613	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3811021	0.85[YRI][hapmap]
rs3827733	0.85[YRI][hapmap]
rs6700802	0.85[YRI][hapmap]
rs7523862	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7524200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 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	chr1:114445600-114449800	Active TSS	GM12878-XiMat	blood
2	chr1:114446000-114447200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr1:114446000-114447200	Flanking Active TSS	K562	blood
4	chr1:114446000-114447400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:114446200-114447200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr1:114446200-114447200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr1:114446200-114447200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr1:114446200-114447200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:114446200-114447200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:114446200-114447200	Flanking Active TSS	Fetal Kidney	kidney
11	chr1:114446200-114447200	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr1:114446200-114447200	Flanking Active TSS	Dnd41	blood
13	chr1:114446200-114447200	Flanking Active TSS	Hela-S3	cervix
14	chr1:114446200-114447200	Flanking Active TSS	HMEC	breast
15	chr1:114446200-114447200	Flanking Active TSS	HUVEC	blood vessel
16	chr1:114446200-114447200	Flanking Active TSS	NH-A	brain
17	chr1:114446200-114447400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr1:114446200-114447400	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr1:114446200-114447400	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr1:114446200-114447400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:114446200-114447400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr1:114446200-114448800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:114446200-114449000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:114446200-114449600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:114446400-114447200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr1:114446400-114447200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr1:114446400-114447200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:114446400-114447200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:114446400-114447200	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr1:114446400-114447200	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr1:114446400-114447200	Flanking Active TSS	Colon Smooth Muscle	Colon
32	chr1:114446400-114447200	Flanking Active TSS	Fetal Brain Female	brain
33	chr1:114446400-114447200	Flanking Active TSS	Fetal Intestine Large	intestine
34	chr1:114446400-114447200	Flanking Active TSS	Fetal Thymus	thymus
35	chr1:114446400-114447200	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr1:114446400-114447200	Flanking Active TSS	HSMM	muscle
37	chr1:114446400-114447200	Flanking Active TSS	NHEK	skin
38	chr1:114446400-114447200	Flanking Active TSS	Osteobl	bone
39	chr1:114446400-114447400	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr1:114446400-114447400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr1:114446400-114447400	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr1:114446400-114447400	Flanking Active TSS	Liver	Liver
43	chr1:114446400-114447400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr1:114446400-114447600	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr1:114446400-114448600	Active TSS	Aorta	Aorta
46	chr1:114446400-114448600	Active TSS	Psoas Muscle	Psoas
47	chr1:114446400-114448600	Active TSS	Right Atrium	heart
48	chr1:114446400-114449200	Active TSS	A549	lung
49	chr1:114446400-114449600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:114446600-114447200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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