Variant report

Variant	rs72855745
Chromosome Location	chr1:9886134-9886135
allele	C/G
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	ZNF217	chr1:9885505-9886134	MCF-7	breast:	n/a	n/a
2	POLR2A	chr1:9885437-9886135	HCT-116	colon:	n/a	n/a
3	PBX3	chr1:9885473-9886234	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr1:9885208-9886220	Hela-S3	cervix:	n/a	n/a
5	STAT3	chr1:9885531-9886164	MCF10A-Er-Src	breast:	n/a	chr1:9885610-9885622 chr1:9885874-9885881
6	SRF	chr1:9885447-9886200	MCF-7	breast:	n/a	chr1:9885839-9885853 chr1:9885838-9885852
7	POLR2A	chr1:9885292-9886300	MCF10A-Er-Src	breast:	n/a	n/a
8	RFX5	chr1:9885038-9886177	Hela-S3	cervix:	n/a	chr1:9885633-9885650
9	CHD2	chr1:9885052-9886152	Hela-S3	cervix:	n/a	n/a
10	FOSL2	chr1:9885136-9886159	A549	lung:	n/a	chr1:9885607-9885614 chr1:9885606-9885614 chr1:9885335-9885349
11	SP1	chr1:9884882-9886285	HCT-116	colon:	n/a	chr1:9885811-9885825 chr1:9885491-9885502 chr1:9885575-9885585 chr1:9885493-9885502 chr1:9885726-9885740 chr1:9885575-9885585
12	TBP	chr1:9885210-9886171	Hela-S3	cervix:	n/a	n/a
13	ELF1	chr1:9885199-9886172	MCF-7	breast:	n/a	chr1:9885810-9885821
14	MAFK	chr1:9885447-9886416	Hela-S3	cervix:	n/a	chr1:9886341-9886357 chr1:9886341-9886356 chr1:9886342-9886353
15	ZNF143	chr1:9884937-9886287	Hela-S3	cervix:	n/a	chr1:9885205-9885224
16	MAX	chr1:9883792-9886193	A549	lung:	n/a	chr1:9884875-9884885
17	SIN3AK20	chr1:9884974-9886242	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:9884569..9887155-chr1:10002902..10004455,2	K562	blood:
2	chr1:9852615..9854985-chr1:9884936..9886688,2	MCF-7	breast:
3	chr1:9882501..9887964-chr1:9906388..9911794,10	MCF-7	breast:
4	chr1:9884699..9887504-chr1:9972988..9975946,2	K562	blood:
5	chr1:9885959..9887810-chr1:9888223..9890308,2	K562	blood:

Variant related genes	Relation type
CLSTN1	TF binding region
ENSG00000228150	Chromatin interaction
ENSG00000223989	Chromatin interaction
ENSG00000162441	Chromatin interaction
ENSG00000173614	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10779731	0.89[EUR][1000 genomes]
rs10864437	0.91[EUR][1000 genomes]
rs10864438	0.89[EUR][1000 genomes]
rs11121490	0.83[EUR][1000 genomes]
rs11121493	0.85[EUR][1000 genomes]
rs11674	0.89[EUR][1000 genomes]
rs11806520	0.93[EUR][1000 genomes]
rs12034239	0.82[EUR][1000 genomes]
rs12047054	0.88[EUR][1000 genomes]
rs12068489	0.91[ASN][1000 genomes]
rs12078414	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087051	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12088273	0.91[EUR][1000 genomes]
rs1220386	0.82[ASN][1000 genomes]
rs1228434	0.85[EUR][1000 genomes]
rs1615629	0.95[EUR][1000 genomes]
rs1631962	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1660738	0.93[ASN][1000 genomes]
rs1660741	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1660742	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1767277	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582979	0.93[ASN][1000 genomes]
rs2788605	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4585981	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56109009	0.89[EUR][1000 genomes]
rs57480158	0.83[EUR][1000 genomes]
rs57560942	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59729812	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6699320	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72855716	0.89[EUR][1000 genomes]
rs72855733	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72855735	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72855747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550246	0.89[EUR][1000 genomes]
rs767762	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs935071	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs946277	0.83[EUR][1000 genomes]
rs946278	0.83[EUR][1000 genomes]
rs946279	0.83[EUR][1000 genomes]

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	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9884200-9886200	Flanking Active TSS	Hela-S3	cervix
2	chr1:9884400-9886200	Flanking Active TSS	NHEK	skin
3	chr1:9884600-9886200	Flanking Active TSS	A549	lung
4	chr1:9884800-9886200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:9884800-9886200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:9884800-9886200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:9884800-9886200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr1:9884800-9886200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:9884800-9887200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:9885000-9886200	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:9885000-9886200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr1:9885000-9886200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:9885000-9886200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:9885000-9886200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:9885000-9886200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:9885000-9886200	Enhancers	Fetal Intestine Large	intestine
17	chr1:9885000-9886200	Enhancers	NH-A	brain
18	chr1:9885000-9888000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:9885200-9886200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:9885200-9886200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr1:9885200-9886400	Enhancers	Stomach Mucosa	stomach
22	chr1:9885400-9886200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:9885400-9886200	Enhancers	Colon Smooth Muscle	Colon
24	chr1:9885400-9886200	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr1:9885400-9886400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:9885400-9887000	Enhancers	Pancreas	Pancrea
27	chr1:9885600-9886200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr1:9885600-9886200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr1:9885600-9886200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:9885600-9886200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr1:9885600-9886200	Enhancers	GM12878-XiMat	blood
32	chr1:9885600-9886200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:9885600-9886800	Weak transcription	Colonic Mucosa	Colon
34	chr1:9885600-9887000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:9885600-9894400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:9885800-9886200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:9885800-9886200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:9885800-9886400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr1:9885800-9887000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:9885800-9887000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr1:9885800-9887600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:9885800-9887600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:9885800-9895200	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:9885800-9895600	Weak transcription	Spleen	Spleen
45	chr1:9885800-9896200	Weak transcription	Psoas Muscle	Psoas
46	chr1:9886000-9886200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr1:9886000-9886200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:9886000-9886200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:9886000-9886200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:9886000-9886200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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