Variant report

Variant	rs56060941
Chromosome Location	chr10:96305461-96305462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:322)
CpG islands
(count:122)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr10:96304756-96305776	GM12878	blood:	n/a	n/a
2	IRF1	chr10:96305236-96305782	K562	blood:	n/a	chr10:96305455-96305467
3	POLR2A	chr10:96305025-96305762	HCT-116	colon:	n/a	n/a
4	SIN3AK20	chr10:96305437-96305725	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr10:96304772-96305858	IMR90	lung:	n/a	n/a
6	HCFC1	chr10:96305278-96305923	K562	blood:	n/a	n/a
7	MAX	chr10:96304566-96306414	ECC-1	luminal epithelium:	n/a	n/a
8	SIN3AK20	chr10:96305259-96305726	HepG2	liver:	n/a	n/a
9	EP300	chr10:96304980-96306137	ECC-1	luminal epithelium:	n/a	chr10:96305116-96305132 chr10:96305030-96305039
10	JUND	chr10:96305283-96305779	H1-hESC	embryonic stem cell:	n/a	chr10:96305486-96305495
11	TAF1	chr10:96304719-96305911	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr10:96305006-96305807	HCT-116	colon:	n/a	n/a
13	MAX	chr10:96305412-96306042	MCF-7	breast:	n/a	n/a
14	MYC	chr10:96304993-96305910	K562	blood:	n/a	n/a
15	POLR2A	chr10:96304671-96306338	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr10:96305062-96306012	ECC-1	luminal epithelium:	n/a	n/a
17	PML	chr10:96304968-96305720	GM12878	blood:	n/a	n/a
18	TBP	chr10:96304807-96305767	HepG2	liver:	n/a	chr10:96305638-96305649
19	MAX	chr10:96305372-96305939	K562	blood:	n/a	n/a
20	POLR2A	chr10:96305158-96305500	A549	lung:	n/a	n/a
21	MAZ	chr10:96304779-96305790	GM12878	blood:	n/a	n/a
22	YY1	chr10:96305024-96306293	A549	lung:	n/a	chr10:96305590-96305604
23	CHD2	chr10:96304722-96306201	GM12878	blood:	n/a	chr10:96305518-96305527
24	RFX5	chr10:96304665-96306243	Hela-S3	cervix:	n/a	n/a
25	ATF2	chr10:96305390-96305741	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr10:96305386-96305824	K562	blood:	n/a	n/a
27	E2F4	chr10:96304948-96307003	MCF10A-Er-Src	breast:	n/a	chr10:96305537-96305544 chr10:96305537-96305548 chr10:96305535-96305546 chr10:96305469-96305476 chr10:96305537-96305544 chr10:96305487-96305499 chr10:96305537-96305544
28	YY1	chr10:96305434-96305982	GM12878	blood:	n/a	chr10:96305590-96305604
29	ZBTB33	chr10:96305133-96306191	SK-N-SH	brain:	n/a	chr10:96305518-96305527 chr10:96305513-96305528
30	MYC	chr10:96304781-96305585	MCF10A-Er-Src	breast:	n/a	n/a
31	ZBTB33	chr10:96305346-96305747	K562	blood:	n/a	chr10:96305518-96305527 chr10:96305513-96305528
32	POLR2A	chr10:96304686-96306384	GM12892	blood:	n/a	n/a
33	POLR2A	chr10:96304885-96305847	HEK293	kidney:	n/a	n/a
34	POLR2A	chr10:96304743-96306681	GM18505	blood:	n/a	n/a
35	POLR2A	chr10:96304689-96306274	GM15510	blood:	n/a	n/a
36	POLR2A	chr10:96304484-96306788	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr10:96304833-96305971	GM12878	blood:	n/a	chr10:96305518-96305527
38	MYC	chr10:96305426-96305681	HUVEC	blood vessel:	n/a	n/a
39	MAX	chr10:96304872-96306386	NB4	blood:	n/a	n/a
40	POLR2A	chr10:96305318-96305920	HL-60	blood:	n/a	n/a
41	PAX5	chr10:96305064-96305483	GM12878	blood:	n/a	n/a
42	BCLAF1	chr10:96304576-96305898	GM12878	blood:	n/a	chr10:96305121-96305134 chr10:96304865-96304874 chr10:96305533-96305542 chr10:96305740-96305753
43	POLR2A	chr10:96304685-96306363	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr10:96304606-96306183	HepG2	liver:	n/a	n/a
45	RELA	chr10:96304731-96305714	GM19193	blood:	n/a	n/a
46	RELA	chr10:96304788-96306336	GM15510	blood:	n/a	n/a
47	POLR2A	chr10:96305297-96305837	K562	blood:	n/a	n/a
48	E2F4	chr10:96305184-96305969	Hela-S3	cervix:	n/a	chr10:96305537-96305544 chr10:96305537-96305548 chr10:96305535-96305546 chr10:96305469-96305476 chr10:96305537-96305544 chr10:96305487-96305499 chr10:96305537-96305544
49	MYBL2	chr10:96305035-96305862	HepG2	liver:	n/a	n/a
50	ZKSCAN1	chr10:96304752-96305983	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:96305431-96305481	AoSMC	blood vessel:	n/a
2	chr10:96305461-96305511	AG09309	skin:	n/a
3	chr10:96305431-96305481	HCM	heart:	n/a
4	chr10:96305431-96305481	SKMC	muscle:	n/a
5	chr10:96305461-96305511	HUVEC	blood vessel:	n/a
6	chr10:96305461-96305511	HEEpiC	esophagus:	n/a
7	chr10:96305431-96305481	SAEC	small airway:	n/a
8	chr10:96305431-96305481	U87	brain:	n/a
9	chr10:96305431-96305481	Caco-2	colon:	n/a
10	chr10:96305461-96305511	A549	lung:	n/a
11	chr10:96305461-96305511	SK-N-MC	brain:	n/a
12	chr10:96305461-96305511	HAEpiC	amniotic membrane:	n/a
13	chr10:96305461-96305511	AG04449	skin:	fetal
14	chr10:96305431-96305481	NB4	blood:	n/a
15	chr10:96305431-96305481	PrEC	prostate:	n/a
16	chr10:96305461-96305511	HRE	kidney:	n/a
17	chr10:96305461-96305511	K562	blood:	n/a
18	chr10:96305461-96305511	HRCEpiC	kidney:	n/a
19	chr10:96305431-96305481	PANC-1	pancreas:	n/a
20	chr10:96305431-96305481	RPTEC	kidney:	n/a
21	chr10:96305461-96305511	PANC-1	pancreas:	n/a
22	chr10:96305431-96305481	AG04450	lung:	fetal
23	chr10:96305431-96305481	HCPEpiC	choroid plexus:	n/a
24	chr10:96305431-96305481	HepG2	liver:	n/a
25	chr10:96305461-96305511	NT2-D1	testis:	n/a
26	chr10:96305431-96305481	GM12878	blood:	n/a
27	chr10:96305461-96305511	Hela-S3	cervix:	n/a
28	chr10:96305431-96305481	GM06990	blood:	n/a
29	chr10:96305461-96305511	SAEC	small airway:	n/a
30	chr10:96305431-96305481	GM12891	blood:	n/a
31	chr10:96305461-96305511	MCF10A-Er-Src	breast:	n/a
32	chr10:96305461-96305511	BJ	skin:	n/a
33	chr10:96305461-96305511	HL-60	blood:	n/a
34	chr10:96305431-96305481	Hela-S3	cervix:	n/a
35	chr10:96305431-96305481	AG10803	skin:	n/a
36	chr10:96305461-96305511	ECC-1	luminal epithelium:	n/a
37	chr10:96305431-96305481	HCT-116	colon:	n/a
38	chr10:96305461-96305511	AG10803	skin:	n/a
39	chr10:96305461-96305511	AG09319	gingival:	n/a
40	chr10:96305431-96305481	T-47D	breast:	n/a
41	chr10:96305431-96305481	BE2_C	brain:	n/a
42	chr10:96305431-96305481	HAEpiC	amniotic membrane:	n/a
43	chr10:96305431-96305481	ECC-1	luminal epithelium:	n/a
44	chr10:96305431-96305481	HCF	heart:	n/a
45	chr10:96305461-96305511	RPTEC	kidney:	n/a
46	chr10:96305461-96305511	GM12892	blood:	n/a
47	chr10:96305431-96305481	SK-N-SH	brain:	n/a
48	chr10:96305431-96305481	Hepatocyte	liver:	n/a
49	chr10:96305431-96305481	ProgFib	skin:	n/a
50	chr10:96305431-96305481	HUVEC	blood vessel:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:96120995..96123181-chr10:96304440..96307322,3	MCF-7	breast:
2	chr10:96160448..96164371-chr10:96304138..96307716,8	MCF-7	breast:
3	chr10:96304740..96307263-chr10:96312412..96314149,2	MCF-7	breast:
4	chr1:210547353..210547863-chr10:96304947..96305551,2	Hela-S3	cervix:
5	chr10:96159758..96162488-chr10:96305268..96307065,2	K562	blood:
6	chr10:96290006..96295152-chr10:96302633..96306565,5	K562	blood:
7	chr10:96305128..96305906-chr3:50336255..50337029,2	Hela-S3	cervix:
8	chr10:96305041..96305800-chr22:46465255..46466051,2	Hela-S3	cervix:
9	chr10:96305075..96307344-chr10:96312057..96315359,3	K562	blood:
10	chr10:96304986..96305759-chr17:8076339..8077014,2	Hela-S3	cervix:
11	chr10:96305307..96305951-chr16:2058934..2059919,2	Hela-S3	cervix:
12	chr10:96304892..96305576-chr14:90863582..90864410,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
HELLS	TF binding region
HELLS	CpG island
ENSG00000235159	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000186792	Chromatin interaction
ENSG00000198668	Chromatin interaction
ENSG00000173145	Chromatin interaction
ENSG00000119969	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000167962	Chromatin interaction
ENSG00000243477	Chromatin interaction
ENSG00000108239	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs41286880	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1053747	chr10:96211618-96366396	Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr10:96304200-96306200	Active TSS	Colonic Mucosa	Colon
2	chr10:96304200-96306400	Active TSS	HSMM	muscle
3	chr10:96304200-96306800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:96304200-96306800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:96304200-96307000	Active TSS	A549	lung
6	chr10:96304400-96305800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr10:96304400-96305800	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr10:96304400-96306000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:96304400-96306200	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr10:96304400-96306200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:96304400-96306200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:96304400-96306200	Active TSS	HMEC	breast
13	chr10:96304400-96306200	Active TSS	NH-A	brain
14	chr10:96304400-96306400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr10:96304400-96306400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr10:96304400-96306400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:96304400-96306600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:96304400-96306600	Active TSS	NHDF-Ad	bronchial
19	chr10:96304400-96306800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:96304400-96306800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:96304400-96306800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr10:96304400-96307000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:96304400-96307000	Active TSS	Muscle Satellite Cultured Cells	--
24	chr10:96304400-96307200	Active TSS	GM12878-XiMat	blood
25	chr10:96304400-96307400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr10:96304400-96307400	Active TSS	K562	blood
27	chr10:96304400-96307600	Active TSS	NHLF	lung
28	chr10:96304400-96309000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:96304600-96305600	Active TSS	Fetal Muscle Trunk	muscle
30	chr10:96304600-96306000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr10:96304600-96306000	Active TSS	Brain Anterior Caudate	brain
32	chr10:96304600-96306000	Active TSS	Brain Cingulate Gyrus	brain
33	chr10:96304600-96306000	Active TSS	Colon Smooth Muscle	Colon
34	chr10:96304600-96306200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr10:96304600-96306200	Active TSS	Aorta	Aorta
36	chr10:96304600-96306200	Active TSS	Ovary	ovary
37	chr10:96304600-96306200	Active TSS	Psoas Muscle	Psoas
38	chr10:96304600-96306400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:96304600-96306400	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr10:96304600-96306400	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr10:96304600-96306400	Active TSS	Fetal Brain Female	brain
42	chr10:96304600-96306400	Active TSS	Fetal Heart	heart
43	chr10:96304600-96306400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr10:96304600-96306400	Active TSS	Fetal Lung	lung
45	chr10:96304600-96306400	Active TSS	Placenta Amnion	Placenta Amnion
46	chr10:96304600-96306400	Active TSS	Right Atrium	heart
47	chr10:96304600-96306400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr10:96304600-96306600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr10:96304600-96306600	Active TSS	Fetal Intestine Large	intestine
50	chr10:96304600-96306600	Active TSS	HSMMtube	muscle

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