Variant report

Variant	rs1463173
Chromosome Location	chr2:98307823-98307824
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr2:98307608-98307944	H1-hESC	embryonic stem cell:	n/a	n/a
2	JUND	chr2:98307643-98307990	H1-hESC	embryonic stem cell:	n/a	n/a
3	GATA3	chr2:98307590-98308935	MCF-7	breast:	n/a	n/a
4	ZNF143	chr2:98307652-98308049	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF217	chr2:98307735-98308066	MCF-7	breast:	n/a	n/a
6	GATA3	chr2:98307709-98308215	MCF-7	breast:	n/a	n/a
7	SIN3A	chr2:98307643-98307953	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr2:98307563-98308045	H1-hESC	embryonic stem cell:	n/a	chr2:98307819-98307830
9	GTF2F1	chr2:98307688-98307888	H1-hESC	embryonic stem cell:	n/a	n/a
10	TEAD4	chr2:98307610-98308062	H1-hESC	embryonic stem cell:	n/a	chr2:98307839-98307848
11	TBP	chr2:98307689-98307943	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr2:98307618-98307960	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr2:98307565-98308110	ECC-1	luminal epithelium:	n/a	chr2:98307839-98307848
14	MYC	chr2:98307722-98307959	MCF-7	breast:	n/a	n/a
15	GATA3	chr2:98307510-98308194	MCF-7	breast:	n/a	n/a
16	CTBP2	chr2:98307565-98308295	H1-hESC	embryonic stem cell:	n/a	n/a
17	TCF12	chr2:98307575-98308007	H1-hESC	embryonic stem cell:	n/a	n/a
18	TCF12	chr2:98307479-98308133	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr2:98307573-98307868	ECC-1	luminal epithelium:	n/a	n/a
20	TEAD4	chr2:98307607-98308119	ECC-1	luminal epithelium:	n/a	chr2:98307839-98307848
21	TEAD4	chr2:98307618-98308005	H1-hESC	embryonic stem cell:	n/a	chr2:98307839-98307848
22	GATA3	chr2:98307734-98308007	T-47D	breast:	n/a	n/a
23	CTCF	chr2:98307780-98307930	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:98262433..98263983-chr2:98307567..98310262,2	MCF-7	breast:
2	chr2:98278665..98281371-chr2:98305087..98308005,4	MCF-7	breast:
3	chr2:98307215..98309904-chr2:98310640..98314213,3	K562	blood:

No data

Variant related genes	Relation type
LINC01125	TF binding region
ENSG00000228486	Chromatin interaction
ENSG00000135940	Chromatin interaction
ENSG00000115073	Chromatin interaction
ENSG00000201806	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1020396	0.80[CHB][hapmap]
rs10496323	0.92[CEU][hapmap];0.80[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11123861	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11547232	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11680855	0.96[CEU][hapmap];0.80[CHB][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11690658	0.93[CEU][hapmap]
rs11691779	0.83[CEU][hapmap]
rs12994535	0.93[CEU][hapmap]
rs12997695	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13000505	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13001728	0.95[CEU][hapmap]
rs13003963	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13034349	0.80[CHB][hapmap]
rs1463174	1.00[CEU][hapmap];0.80[CHB][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1800649	0.96[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1965204	0.92[CEU][hapmap]
rs35211079	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3931133	0.92[CEU][hapmap]
rs55772322	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56281704	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62157580	0.82[ASN][1000 genomes]
rs6718109	0.92[CEU][hapmap]

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	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1463173	ANKRD36B	cis	Thyroid	GTEx
rs1463173	ANKRD36B	cis	Skin Sun Exposed Lower leg	GTEx
rs1463173	ANKRD36B	cis	Nerve Tibial	GTEx
rs1463173	ANKRD36B	cis	lung	GTEx
rs1463173	AC017099.3	cis	Muscle Skeletal	GTEx
rs1463173	ANKRD36B	cis	Artery Tibial	GTEx
rs1463173	ANKRD36B	cis	Esophagus Mucosa	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98281000-98323800	Weak transcription	Gastric	stomach
2	chr2:98292200-98317800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:98305600-98313600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:98306000-98322400	Weak transcription	Fetal Stomach	stomach
5	chr2:98307000-98313400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:98307400-98308400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:98307600-98308200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:98307600-98308200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr2:98307600-98308200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:98307600-98308200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:98307600-98308200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr2:98307600-98308200	Enhancers	HMEC	breast
13	chr2:98307600-98308400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:98307600-98308600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:98307800-98308000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:98307800-98308000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:98307800-98308200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:98307800-98308200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:98307800-98308400	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:98307800-98310800	Enhancers	Primary neutrophils fromperipheralblood	blood

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