Variant report

Variant	rs72976884
Chromosome Location	chr11:73471036-73471037
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	MAX	chr11:73470752-73471799	A549	lung:	n/a	n/a
2	CTCF	chr11:73470980-73471130	AG10803	skin:	n/a	n/a
3	POLR2A	chr11:73471019-73471826	HUVEC	blood vessel:	n/a	n/a
4	SMARCC2	chr11:73470819-73472072	Hela-S3	cervix:	n/a	n/a
5	EBF1	chr11:73470928-73471282	GM12878	blood:	n/a	chr11:73471124-73471135
6	TAF1	chr11:73470672-73471543	H1-neurons	neurons:	n/a	n/a
7	CHD1	chr11:73470175-73472986	IMR90	lung:	n/a	n/a
8	STAT5A	chr11:73470810-73471293	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:73470933-73471414	K562	blood:	n/a	n/a
10	TAF1	chr11:73470943-73472910	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF1	chr11:73470844-73472894	H1-neurons	neurons:	n/a	n/a
12	UBTF	chr11:73470713-73472429	K562	blood:	n/a	n/a
13	EBF1	chr11:73470939-73471260	GM12878	blood:	n/a	chr11:73471124-73471135
14	MTA3	chr11:73470749-73471714	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:73470919-73472822	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr11:73470940-73471090	BJ	skin:	n/a	n/a
17	BACH1	chr11:73470757-73471604	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAZ	chr11:73470841-73472957	IMR90	lung:	n/a	n/a
19	ZBTB7A	chr11:73470914-73471640	ECC-1	luminal epithelium:	n/a	n/a
20	REST	chr11:73470122-73473031	H1-neurons	neurons:	n/a	chr11:73472243-73472252 chr11:73472016-73472029
21	POLR2A	chr11:73470590-73471859	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr11:73470904-73472490	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:73470795-73472825	PFSK-1	brain:	n/a	n/a
24	CTCF	chr11:73471020-73471170	BJ	skin:	n/a	n/a
25	SIN3AK20	chr11:73470785-73472572	PANC-1	pancreas:	n/a	n/a
26	SIN3A	chr11:73470333-73472837	H1-hESC	embryonic stem cell:	n/a	chr11:73472396-73472407
27	CTCF	chr11:73471000-73471150	AG04449	skin:	n/a	n/a
28	MXI1	chr11:73470216-73472687	IMR90	lung:	n/a	n/a
29	MAFK	chr11:73470718-73471134	K562	blood:	n/a	n/a
30	MAFK	chr11:73470119-73471231	Hela-S3	cervix:	n/a	chr11:73470254-73470263 chr11:73470249-73470264 chr11:73470256-73470266
31	RFX5	chr11:73470024-73472873	SK-N-SH	brain:	n/a	chr11:73472384-73472393
32	SIN3AK20	chr11:73470669-73472894	MCF-7	breast:	n/a	n/a
33	POLR2A	chr11:73470692-73472522	IMR90	lung:	n/a	n/a
34	RAD21	chr11:73470600-73471229	IMR90	lung:	n/a	n/a
35	EBF1	chr11:73470890-73471327	GM12878	blood:	n/a	chr11:73471124-73471135
36	MAX	chr11:73470656-73472760	Hela-S3	cervix:	n/a	n/a
37	SIN3AK20	chr11:73471024-73471617	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:73471021-73471040	ProgFib	skin:	n/a	n/a
39	CHD1	chr11:73470727-73472496	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:73470991-73472762	Hela-S3	cervix:	n/a	n/a
41	SMC3	chr11:73470191-73472766	Hela-S3	cervix:	n/a	chr11:73472313-73472327 chr11:73471462-73471476
42	MXI1	chr11:73470057-73472970	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr11:73470567-73472958	H1-neurons	neurons:	n/a	n/a
44	CTCF	chr11:73470940-73471090	GM12872	blood:	n/a	n/a
45	SMARCC1	chr11:73470773-73472830	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:73470859-73472738	Hela-S3	cervix:	n/a	n/a
47	MAX	chr11:73470930-73471493	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr11:73470928-73472925	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr11:73470807-73472910	HUVEC	blood vessel:	n/a	n/a
50	MYC	chr11:73470925-73471133	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73469206..73473775-chr11:73494297..73499248,5	K562	blood:
2	chr11:73470519..73472838-chr11:73586575..73589489,2	MCF-7	breast:
3	chr11:73470660..73473982-chr11:73497982..73500813,6	MCF-7	breast:
4	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:
5	chr11:73371264..73374255-chr11:73470720..73472543,3	MCF-7	breast:
6	chr11:73470211..73473572-chr11:73496692..73501846,8	MCF-7	breast:
7	chr11:73371858..73374878-chr11:73470388..73473197,3	MCF-7	breast:
8	chr11:73470670..73473023-chr8:128747160..128749276,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256034	TF binding region
ENSG00000021300	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000175581	Chromatin interaction
ENSG00000181924	Chromatin interaction
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11235911	0.92[ASN][1000 genomes]
rs11235918	0.90[ASN][1000 genomes]
rs11235928	0.84[ASN][1000 genomes]
rs12225286	0.90[ASN][1000 genomes]
rs1474417	0.90[ASN][1000 genomes]
rs1670536	0.84[ASN][1000 genomes]
rs1792163	0.84[ASN][1000 genomes]
rs56307666	0.84[ASN][1000 genomes]
rs5792633	0.92[ASN][1000 genomes]
rs57974546	0.88[ASN][1000 genomes]
rs59187119	0.90[ASN][1000 genomes]
rs66465726	0.90[ASN][1000 genomes]
rs7104794	0.84[ASN][1000 genomes]
rs7130191	0.90[ASN][1000 genomes]
rs72976849	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72976851	0.81[ASN][1000 genomes]
rs72982946	0.82[AMR][1000 genomes]
rs72989216	0.92[ASN][1000 genomes]
rs72989220	0.92[ASN][1000 genomes]
rs72989224	0.92[ASN][1000 genomes]
rs72989263	0.84[ASN][1000 genomes]
rs7924705	0.92[ASN][1000 genomes]
rs7931143	0.84[ASN][1000 genomes]
rs7937366	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv897912	chr11:73436008-73477045	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73468400-73471400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:73469000-73472800	Active TSS	GM12878-XiMat	blood
3	chr11:73469200-73472800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr11:73469200-73472800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:73469400-73471200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:73469400-73472600	Active TSS	HMEC	breast
7	chr11:73469400-73472600	Active TSS	NHLF	lung
8	chr11:73469400-73473000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:73469600-73471200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:73469600-73471400	Active TSS	Right Atrium	heart
11	chr11:73469600-73472600	Active TSS	HSMMtube	muscle
12	chr11:73469600-73472800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:73469600-73473000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:73469800-73471200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr11:73469800-73472200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr11:73469800-73472400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:73469800-73472600	Active TSS	Fetal Intestine Large	intestine
18	chr11:73469800-73473000	Active TSS	HSMM	muscle
19	chr11:73470000-73471200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:73470000-73471200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:73470000-73471200	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr11:73470000-73472200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:73470000-73472600	Active TSS	Fetal Intestine Small	intestine
24	chr11:73470000-73472800	Active TSS	Psoas Muscle	Psoas
25	chr11:73470000-73473000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:73470000-73473000	Active TSS	Brain Angular Gyrus	brain
27	chr11:73470200-73471200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr11:73470200-73471400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:73470200-73472600	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr11:73470200-73472600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:73470200-73472600	Active TSS	Muscle Satellite Cultured Cells	--
32	chr11:73470200-73472600	Active TSS	Fetal Muscle Leg	muscle
33	chr11:73470200-73472600	Active TSS	Placenta	Placenta
34	chr11:73470200-73472600	Active TSS	Fetal Stomach	stomach
35	chr11:73470200-73472600	Active TSS	Stomach Mucosa	stomach
36	chr11:73470200-73472800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:73470200-73472800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:73470200-73472800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr11:73470200-73472800	Active TSS	Aorta	Aorta
40	chr11:73470200-73472800	Active TSS	Fetal Brain Female	brain
41	chr11:73470200-73472800	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:73470200-73472800	Active TSS	Ovary	ovary
43	chr11:73470200-73472800	Active TSS	Right Ventricle	heart
44	chr11:73470200-73472800	Active TSS	NHDF-Ad	bronchial
45	chr11:73470200-73473000	Active TSS	H9 Cell Line	embryonic stem cell
46	chr11:73470200-73473000	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr11:73470200-73473000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:73470200-73473000	Active TSS	Colonic Mucosa	Colon
49	chr11:73470400-73471200	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr11:73470400-73471200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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