Variant report

Variant	rs73154570
Chromosome Location	chr22:34315463-34315464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr22:34315397-34315849	GM12878	blood:	n/a	n/a
2	BHLHE40	chr22:34315460-34315917	GM12878	blood:	n/a	n/a
3	CTCF	chr22:34315400-34315550	BJ	skin:	n/a	n/a
4	SMC3	chr22:34315380-34315621	GM12878	blood:	n/a	n/a
5	RUNX3	chr22:34315291-34315966	GM12878	blood:	n/a	n/a
6	EBF1	chr22:34315277-34315931	GM12878	blood:	n/a	n/a
7	MTA3	chr22:34315310-34315824	GM12878	blood:	n/a	n/a
8	USF1	chr22:34315418-34315910	H1-hESC	embryonic stem cell:	n/a	chr22:34315693-34315704
9	POLR2A	chr22:34315265-34316363	GM12892	blood:	n/a	n/a
10	ZNF263	chr22:34315224-34315843	HEK293-T-REx	kidney:	n/a	n/a
11	TAF1	chr22:34315322-34315996	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr22:34315462-34315794	H1-hESC	embryonic stem cell:	n/a	n/a
13	EP300	chr22:34315420-34315926	GM12878	blood:	n/a	chr22:34315749-34315765
14	MXI1	chr22:34315329-34318225	IMR90	lung:	n/a	n/a
15	POLR2A	chr22:34315348-34317475	GM12892	blood:	n/a	n/a
16	CHD1	chr22:34315387-34316282	H1-hESC	embryonic stem cell:	n/a	chr22:34315519-34315529
17	CTCF	chr22:34315440-34315590	AoAF	blood vessel:	n/a	n/a
18	TBP	chr22:34315400-34315856	H1-hESC	embryonic stem cell:	n/a	n/a
19	RUNX3	chr22:34315308-34315902	GM12878	blood:	n/a	n/a
20	POLR2A	chr22:34315252-34315713	GM12892	blood:	n/a	n/a
21	TBL1XR1	chr22:34315303-34315681	GM12878	blood:	n/a	n/a
22	CTCF	chr22:34315420-34315570	AG04449	skin:	n/a	n/a
23	USF1	chr22:34315457-34315886	H1-hESC	embryonic stem cell:	n/a	chr22:34315693-34315704
24	MAX	chr22:34315364-34315620	GM12878	blood:	n/a	n/a
25	CTCF	chr22:34315420-34315570	GM12873	blood:	n/a	n/a
26	POLR2A	chr22:34315192-34316453	GM12878	blood:	n/a	n/a
27	GTF2F1	chr22:34315435-34315505	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr22:34315421-34315833	MCF-7	breast:	n/a	n/a
29	CTCF	chr22:34315454-34315615	Fibrobl	skin:	n/a	n/a
30	POLR2A	chr22:34315248-34316087	GM12891	blood:	n/a	n/a
31	POLR2A	chr22:34315247-34315891	GM12878	blood:	n/a	n/a
32	SIN3A	chr22:34313786-34316435	H1-hESC	embryonic stem cell:	n/a	chr22:34316084-34316093 chr22:34316219-34316228
33	TBP	chr22:34315296-34315718	GM12878	blood:	n/a	n/a
34	CTCF	chr22:34315436-34316329	GM12878	blood:	n/a	n/a
35	POLR2A	chr22:34315161-34316304	GM12892	blood:	n/a	n/a
36	POLR2A	chr22:34315226-34316509	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr22:34315305-34315960	GM12891	blood:	n/a	n/a
38	CHD1	chr22:34315321-34315814	GM12878	blood:	n/a	chr22:34315519-34315529
39	POLR2A	chr22:34315434-34315843	H1-neurons	neurons:	n/a	n/a
40	STAT1	chr22:34315439-34315657	GM12878	blood:	n/a	n/a
41	POLR2A	chr22:34315397-34315513	MCF-7	breast:	n/a	n/a
42	POLR2A	chr22:34315289-34316574	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr22:34315460-34315610	AG04449	skin:	n/a	n/a
44	WRNIP1	chr22:34315404-34315615	GM12878	blood:	n/a	n/a
45	POLR2A	chr22:34315411-34316454	GM12878	blood:	n/a	n/a
46	SIN3A	chr22:34315367-34315755	GM12878	blood:	n/a	n/a
47	POLR2A	chr22:34315337-34317736	GM18505	blood:	n/a	n/a
48	MAZ	chr22:34315342-34315698	GM12878	blood:	n/a	n/a
49	POLR2A	chr22:34315116-34316265	GM12878	blood:	n/a	n/a
50	POLR2A	chr22:34315233-34316599	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:34297092..34298993-chr22:34314365..34316257,2	MCF-7	breast:
2	chr22:34269243..34272868-chr22:34312880..34316299,3	MCF-7	breast:
3	chr22:34296673..34299632-chr22:34313962..34315661,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273082	TF binding region
ENSG00000133424	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1962596	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1962597	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73154568	0.87[EUR][1000 genomes]
rs73154580	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73154597	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3340037	chr22:34315352-34318150	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34313600-34315800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr22:34313600-34315800	Flanking Active TSS	Fetal Brain Female	brain
3	chr22:34313600-34319000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:34313800-34315800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:34313800-34316400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr22:34313800-34319200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr22:34314000-34319000	Active TSS	Right Atrium	heart
8	chr22:34314200-34316200	Active TSS	Fetal Kidney	kidney
9	chr22:34314200-34316400	Active TSS	Brain Angular Gyrus	brain
10	chr22:34314200-34318400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:34314200-34319000	Active TSS	Left Ventricle	heart
12	chr22:34314400-34316000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:34314400-34316400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr22:34314600-34316000	Flanking Active TSS	Ovary	ovary
15	chr22:34314600-34316400	Active TSS	Rectal Smooth Muscle	rectum
16	chr22:34314600-34316400	Active TSS	HSMMtube	muscle
17	chr22:34314800-34315800	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr22:34314800-34315800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr22:34314800-34316000	Active TSS	Fetal Heart	heart
20	chr22:34314800-34316000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr22:34314800-34316200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr22:34314800-34316400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr22:34314800-34318600	Active TSS	Gastric	stomach
24	chr22:34315000-34315600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr22:34315000-34315600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr22:34315000-34315600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:34315000-34315600	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr22:34315000-34315600	Flanking Active TSS	Fetal Brain Male	brain
29	chr22:34315000-34315600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr22:34315000-34315800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr22:34315000-34315800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:34315000-34315800	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr22:34315000-34315800	Flanking Active TSS	NHEK	skin
34	chr22:34315000-34316000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr22:34315000-34316400	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr22:34315000-34316400	Active TSS	Fetal Intestine Large	intestine
37	chr22:34315000-34316400	Active TSS	Fetal Intestine Small	intestine
38	chr22:34315000-34316400	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr22:34315000-34316400	Active TSS	GM12878-XiMat	blood
40	chr22:34315000-34319200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr22:34315000-34319200	Active TSS	Psoas Muscle	Psoas
42	chr22:34315200-34315600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr22:34315200-34315600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr22:34315200-34315600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr22:34315200-34315600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr22:34315200-34315600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr22:34315200-34315600	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr22:34315200-34315600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:34315200-34315800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
50	chr22:34315200-34315800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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