Variant report

Variant	rs7074999
Chromosome Location	chr10:50602997-50602998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr10:50602952-50604527	H1-hESC	embryonic stem cell:	n/a	chr10:50604253-50604262
2	MAX	chr10:50602793-50603428	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr10:50602676-50604541	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr10:50602745-50607042	SK-N-SH	brain:	n/a	chr10:50602885-50602894 chr10:50604253-50604262 chr10:50604255-50604264
5	SUZ12	chr10:50602816-50607506	NT2-D1	testis:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:50602990-50603040	ECC-1	luminal epithelium:	n/a
2	chr10:50602990-50603040	BE2_C	brain:	n/a
3	chr10:50602990-50603040	AG04449	skin:	fetal
4	chr10:50602990-50603040	NB4	blood:	n/a
5	chr10:50602990-50603040	MCF-7	breast:	n/a
6	chr10:50602990-50603040	SK-N-MC	brain:	n/a
7	chr10:50602990-50603040	HepG2	liver:	n/a
8	chr10:50602990-50603040	PFSK-1	brain:	n/a
9	chr10:50602990-50603040	MCF10A-Er-Src	breast:	n/a
10	chr10:50602990-50603040	HUVEC	blood vessel:	n/a
11	chr10:50602990-50603040	AoSMC	blood vessel:	n/a
12	chr10:50602990-50603040	NH-A	brain:	n/a
13	chr10:50602990-50603040	LNCaP	prostate:	n/a
14	chr10:50602990-50603040	GM19239	blood:	n/a
15	chr10:50602990-50603040	T-47D	breast:	n/a
16	chr10:50602990-50603040	NHDF-neo	bronchial:	n/a
17	chr10:50602990-50603040	HNPCEpiC	eye:	n/a
18	chr10:50602990-50603040	GM12892	blood:	n/a
19	chr10:50602990-50603040	CMK	blood:	n/a
20	chr10:50602990-50603040	HCF	heart:	n/a
21	chr10:50602990-50603040	AG10803	skin:	n/a
22	chr10:50602990-50603040	HAEpiC	amniotic membrane:	n/a
23	chr10:50602990-50603040	IMR90	lung:	fetal
24	chr10:50602990-50603040	SKMC	muscle:	n/a
25	chr10:50602990-50603040	SK-N-SH	brain:	n/a
26	chr10:50602990-50603040	HEK293	kidney:	embryo
27	chr10:50602990-50603040	PrEC	prostate:	n/a
28	chr10:50602990-50603040	ovcar-3	ovarian:	n/a
29	chr10:50602990-50603040	NT2-D1	testis:	n/a
30	chr10:50602990-50603040	U87	brain:	n/a
31	chr10:50602990-50603040	ProgFib	skin:	n/a
32	chr10:50602990-50603040	AG09309	skin:	n/a
33	chr10:50602990-50603040	BJ	skin:	n/a
34	chr10:50602990-50603040	HEEpiC	esophagus:	n/a
35	chr10:50602990-50603040	HRPEpiC	eye:	n/a
36	chr10:50602990-50603040	K562	blood:	n/a
37	chr10:50602990-50603040	NHBE	bronchial:	n/a
38	chr10:50602990-50603040	GM06990	blood:	n/a
39	chr10:50602990-50603040	HPAEpiC	pulmonary alveolar:	n/a
40	chr10:50602990-50603040	A549	lung:	n/a
41	chr10:50602990-50603040	Caco-2	colon:	n/a
42	chr10:50602990-50603040	Jurkat	blood:	n/a
43	chr10:50602990-50603040	H1-hESC	embryonic stem cell:	embryo
44	chr10:50602990-50603040	GM12878	blood:	n/a
45	chr10:50602990-50603040	PANC-1	pancreas:	n/a
46	chr10:50602990-50603040	SK-N-SH_RA	brain:	n/a
47	chr10:50602990-50603040	Hela-S3	cervix:	n/a
48	chr10:50602990-50603040	AG09319	gingival:	n/a
49	chr10:50602990-50603040	HCPEpiC	choroid plexus:	n/a
50	chr10:50602990-50603040	RPTEC	kidney:	n/a

No data

Variant related genes	Relation type
DRGX	TF binding region
DRGX	CpG island

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10857480	1.00[CEU][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11101076	0.80[CEU][hapmap]
rs11101085	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs11101086	0.88[EUR][1000 genomes]
rs11101115	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs12220898	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12254955	0.80[CEU][hapmap]
rs2889782	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4478905	0.80[CEU][hapmap]
rs4483512	0.80[CEU][hapmap]
rs55892993	0.88[EUR][1000 genomes]
rs56114955	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56165245	0.88[EUR][1000 genomes]
rs56190599	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56203859	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61519033	0.88[EUR][1000 genomes]
rs7082585	0.80[CEU][hapmap]
rs7915976	0.81[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs912467	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv895377	chr10:50588990-50678212	ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50600800-50603000	Weak transcription	Right Atrium	heart
2	chr10:50602200-50604200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr10:50602600-50603000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:50602600-50604200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr10:50602600-50604200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr10:50602600-50604200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:50602600-50604400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr10:50602800-50603000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
9	chr10:50602800-50603000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:50602800-50603000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:50602800-50603200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:50602800-50603200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
13	chr10:50602800-50603400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:50602800-50603600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr10:50602800-50604000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:50602800-50604000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr10:50602800-50604200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:50602800-50604200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:50602800-50604200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr10:50602800-50604200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr10:50602800-50604200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:50602800-50604200	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr10:50602800-50604400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:50602800-50604800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr10:50602800-50606600	Enhancers	Pancreas	Pancrea
26	chr10:50602800-50607200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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