Variant report

Variant	rs9441911
Chromosome Location	chr1:222721673-222721674
allele	C/T
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	FOXA2	chr1:222721190-222721680	A549	lung:	n/a	n/a
2	CEBPB	chr1:222721636-222721988	HepG2	liver:	n/a	chr1:222721811-222721822 chr1:222721808-222721825
3	JUND	chr1:222721672-222721991	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:222721236-222721691	U87	brain:	n/a	n/a
5	ZNF263	chr1:222721058-222721715	K562	blood:	n/a	chr1:222721476-222721497 chr1:222721450-222721471
6	CEBPB	chr1:222721639-222721974	A549	lung:	n/a	chr1:222721811-222721822 chr1:222721808-222721825
7	CEBPB	chr1:222721668-222721952	IMR90	lung:	n/a	chr1:222721811-222721822 chr1:222721808-222721825
8	ZNF263	chr1:222721249-222721796	HEK293-T-REx	kidney:	n/a	chr1:222721476-222721497 chr1:222721450-222721471
9	POLR2A	chr1:222719907-222721705	U87	brain:	n/a	n/a
10	JUND	chr1:222721377-222721948	K562	blood:	n/a	n/a
11	POLR2A	chr1:222719901-222721711	U87	brain:	n/a	n/a
12	MAZ	chr1:222721345-222721687	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222720096..222721859-chr1:222816165..222817680,2	MCF-7	breast:

Variant related genes	Relation type
HHIPL2	TF binding region
ENSG00000154305	Chromatin interaction

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	1.00[CHD][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17511318	1.00[CHD][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1909194	1.00[CHD][hapmap];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	1.00[CHD][hapmap];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	1.00[CHD][hapmap];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]
rs4328077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	1.00[CHD][hapmap];0.98[EUR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222718800-222722000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:222719600-222722000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:222720000-222722000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:222720000-222722000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:222720200-222722000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr1:222720200-222722000	Flanking Active TSS	HepG2	liver
7	chr1:222720400-222728800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:222720400-222729200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:222720400-222729200	Weak transcription	Fetal Lung	lung
10	chr1:222720400-222730200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:222720400-222732200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:222720400-222733800	Weak transcription	Fetal Kidney	kidney
13	chr1:222720600-222721800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:222720600-222729600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:222720600-222730200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:222720800-222722000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:222720800-222722000	Flanking Active TSS	A549	lung
18	chr1:222720800-222722000	Enhancers	Hela-S3	cervix
19	chr1:222720800-222722000	Enhancers	NHDF-Ad	bronchial
20	chr1:222720800-222728600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:222720800-222729400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:222720800-222734000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:222720800-222742400	Weak transcription	NHLF	lung
24	chr1:222720800-222757400	Weak transcription	HSMMtube	muscle
25	chr1:222721000-222721800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:222721000-222722000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:222721000-222722200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:222721000-222729400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:222721000-222733000	Weak transcription	NH-A	brain
30	chr1:222721200-222721800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:222721200-222721800	Enhancers	HSMM	muscle
32	chr1:222721200-222729200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:222721200-222729400	Weak transcription	NHEK	skin
34	chr1:222721200-222762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:222721400-222721800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:222721400-222721800	Enhancers	Stomach Mucosa	stomach
37	chr1:222721400-222722200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:222721400-222728800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:222721400-222729200	Weak transcription	Placenta	Placenta
40	chr1:222721400-222730400	Weak transcription	HMEC	breast
41	chr1:222721400-222730800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:222721600-222722000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:222721600-222722200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:222721600-222729000	Weak transcription	K562	blood
45	chr1:222721600-222729200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:222721600-222729400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:222721600-222729400	Weak transcription	Gastric	stomach
48	chr1:222721600-222729400	Weak transcription	Osteobl	bone
49	chr1:222721600-222730200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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