Variant report

Variant	rs4328077
Chromosome Location	chr1:222722258-222722259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:222722210-222722260	HUVEC	blood vessel:	n/a
2	chr1:222722210-222722260	HL-60	blood:	n/a
3	chr1:222722210-222722260	ECC-1	luminal epithelium:	n/a
4	chr1:222722210-222722260	AoSMC	blood vessel:	n/a
5	chr1:222722210-222722260	CMK	blood:	n/a
6	chr1:222722210-222722260	HRCEpiC	kidney:	n/a
7	chr1:222722210-222722260	SK-N-MC	brain:	n/a
8	chr1:222722210-222722260	SKMC	muscle:	n/a
9	chr1:222722210-222722260	SK-N-SH_RA	brain:	n/a
10	chr1:222722210-222722260	MCF10A-Er-Src	breast:	n/a
11	chr1:222722210-222722260	GM06990	blood:	n/a
12	chr1:222722210-222722260	Hela-S3	cervix:	n/a
13	chr1:222722210-222722260	U87	brain:	n/a
14	chr1:222722210-222722260	Jurkat	blood:	n/a
15	chr1:222722210-222722260	AG09319	gingival:	n/a
16	chr1:222722210-222722260	H1-hESC	embryonic stem cell:	embryo
17	chr1:222722210-222722260	NHBE	bronchial:	n/a
18	chr1:222722210-222722260	PrEC	prostate:	n/a
19	chr1:222722210-222722260	Hepatocyte	liver:	n/a
20	chr1:222722210-222722260	RPTEC	kidney:	n/a
21	chr1:222722210-222722260	GM19239	blood:	n/a
22	chr1:222722210-222722260	HCPEpiC	choroid plexus:	n/a
23	chr1:222722210-222722260	HRE	kidney:	n/a
24	chr1:222722210-222722260	HRPEpiC	eye:	n/a
25	chr1:222722210-222722260	NT2-D1	testis:	n/a
26	chr1:222722210-222722260	HPAEpiC	pulmonary alveolar:	n/a
27	chr1:222722210-222722260	LNCaP	prostate:	n/a
28	chr1:222722210-222722260	HCM	heart:	n/a
29	chr1:222722210-222722260	GM12891	blood:	n/a
30	chr1:222722210-222722260	AG04449	skin:	fetal
31	chr1:222722210-222722260	PANC-1	pancreas:	n/a
32	chr1:222722210-222722260	PFSK-1	brain:	n/a
33	chr1:222722210-222722260	HCT-116	colon:	n/a
34	chr1:222722210-222722260	K562	blood:	n/a
35	chr1:222722210-222722260	Caco-2	colon:	n/a
36	chr1:222722210-222722260	AG09309	skin:	n/a
37	chr1:222722210-222722260	NHDF-neo	bronchial:	n/a
38	chr1:222722210-222722260	SAEC	small airway:	n/a
39	chr1:222722210-222722260	AG10803	skin:	n/a
40	chr1:222722210-222722260	BE2_C	brain:	n/a
41	chr1:222722210-222722260	HEK293	kidney:	embryo
42	chr1:222722210-222722260	HepG2	liver:	n/a
43	chr1:222722210-222722260	NB4	blood:	n/a
44	chr1:222722210-222722260	GM12878	blood:	n/a
45	chr1:222722210-222722260	NH-A	brain:	n/a
46	chr1:222722210-222722260	HMEC	breast:	n/a
47	chr1:222722210-222722260	IMR90	lung:	fetal
48	chr1:222722210-222722260	HNPCEpiC	eye:	n/a
49	chr1:222722210-222722260	GM12892	blood:	n/a
50	chr1:222722210-222722260	HCF	heart:	n/a

No data

Variant related genes	Relation type
HHIPL2	CpG island

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1024065	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495194	0.90[EUR][1000 genomes]
rs17463740	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17464857	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17511318	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1909194	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982983	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006790	0.89[EUR][1000 genomes]
rs2936030	0.90[EUR][1000 genomes]
rs2936039	0.91[EUR][1000 genomes]
rs2936041	0.91[EUR][1000 genomes]
rs2936044	0.83[EUR][1000 genomes]
rs2936045	0.83[EUR][1000 genomes]
rs2936046	0.83[EUR][1000 genomes]
rs3002130	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008645	0.84[EUR][1000 genomes]
rs3008647	0.90[EUR][1000 genomes]
rs3008653	0.91[EUR][1000 genomes]
rs3008654	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008655	0.83[EUR][1000 genomes]
rs35750438	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122816	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122823	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122834	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122837	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122849	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122850	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122857	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74148133	0.90[EUR][1000 genomes]
rs74148140	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74148142	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9441828	0.98[EUR][1000 genomes]
rs9441911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv2762168	chr1:222717698-222736854	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222720400-222728800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:222720400-222729200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:222720400-222729200	Weak transcription	Fetal Lung	lung
4	chr1:222720400-222730200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:222720400-222732200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:222720400-222733800	Weak transcription	Fetal Kidney	kidney
7	chr1:222720600-222729600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:222720600-222730200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:222720800-222728600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:222720800-222729400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:222720800-222734000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:222720800-222742400	Weak transcription	NHLF	lung
13	chr1:222720800-222757400	Weak transcription	HSMMtube	muscle
14	chr1:222721000-222729400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:222721000-222733000	Weak transcription	NH-A	brain
16	chr1:222721200-222729200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:222721200-222729400	Weak transcription	NHEK	skin
18	chr1:222721200-222762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:222721400-222728800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:222721400-222729200	Weak transcription	Placenta	Placenta
21	chr1:222721400-222730400	Weak transcription	HMEC	breast
22	chr1:222721400-222730800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:222721600-222729000	Weak transcription	K562	blood
24	chr1:222721600-222729200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:222721600-222729400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:222721600-222729400	Weak transcription	Gastric	stomach
27	chr1:222721600-222729400	Weak transcription	Osteobl	bone
28	chr1:222721600-222730200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:222721800-222728200	Weak transcription	HSMM	muscle
30	chr1:222721800-222729400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:222721800-222762400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:222722000-222725000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:222722000-222726200	Weak transcription	NHDF-Ad	bronchial
34	chr1:222722000-222727600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:222722000-222728800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:222722000-222729000	Weak transcription	A549	lung
37	chr1:222722000-222729600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:222722000-222730600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:222722000-222730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:222722000-222745000	Weak transcription	Hela-S3	cervix
41	chr1:222722000-222755600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:222722000-222755800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:222722200-222725000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:222722200-222728800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:222722200-222729400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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