Variant report

Variant	rs528303595
Chromosome Location	chr22:34315361-34315362
allele	A/C
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	RUNX3	chr22:34315291-34315966	GM12878	blood:	n/a	n/a
2	EBF1	chr22:34315277-34315931	GM12878	blood:	n/a	n/a
3	MTA3	chr22:34315310-34315824	GM12878	blood:	n/a	n/a
4	POLR2A	chr22:34315265-34316363	GM12892	blood:	n/a	n/a
5	ZNF263	chr22:34315224-34315843	HEK293-T-REx	kidney:	n/a	n/a
6	TAF1	chr22:34315322-34315996	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr22:34315329-34318225	IMR90	lung:	n/a	n/a
8	POLR2A	chr22:34315348-34317475	GM12892	blood:	n/a	n/a
9	RUNX3	chr22:34315308-34315902	GM12878	blood:	n/a	n/a
10	POLR2A	chr22:34315252-34315713	GM12892	blood:	n/a	n/a
11	TBL1XR1	chr22:34315303-34315681	GM12878	blood:	n/a	n/a
12	POLR2A	chr22:34315192-34316453	GM12878	blood:	n/a	n/a
13	POLR2A	chr22:34315248-34316087	GM12891	blood:	n/a	n/a
14	POLR2A	chr22:34315247-34315891	GM12878	blood:	n/a	n/a
15	SIN3A	chr22:34313786-34316435	H1-hESC	embryonic stem cell:	n/a	chr22:34316084-34316093 chr22:34316219-34316228
16	TBP	chr22:34315296-34315718	GM12878	blood:	n/a	n/a
17	POLR2A	chr22:34315358-34315451	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr22:34315161-34316304	GM12892	blood:	n/a	n/a
19	POLR2A	chr22:34315226-34316509	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr22:34315305-34315960	GM12891	blood:	n/a	n/a
21	CHD1	chr22:34315321-34315814	GM12878	blood:	n/a	chr22:34315519-34315529
22	POLR2A	chr22:34315289-34316574	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr22:34315337-34317736	GM18505	blood:	n/a	n/a
24	MAZ	chr22:34315342-34315698	GM12878	blood:	n/a	n/a
25	POLR2A	chr22:34315116-34316265	GM12878	blood:	n/a	n/a
26	POLR2A	chr22:34315233-34316599	GM12892	blood:	n/a	n/a
27	RAD21	chr22:34315263-34316510	IMR90	lung:	n/a	chr22:34315668-34315677 chr22:34316218-34316232
28	EBF1	chr22:34315120-34315756	GM12878	blood:	n/a	chr22:34315133-34315142

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:

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34312800-34315400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:34313600-34315400	Enhancers	Stomach Mucosa	stomach
3	chr22:34313600-34315800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:34313600-34315800	Flanking Active TSS	Fetal Brain Female	brain
5	chr22:34313600-34319000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:34313800-34315400	Flanking Active TSS	HepG2	liver
7	chr22:34313800-34315800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:34313800-34316400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr22:34313800-34319200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr22:34314000-34315400	Active TSS	Brain Hippocampus Middle	brain
11	chr22:34314000-34315400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr22:34314000-34319000	Active TSS	Right Atrium	heart
13	chr22:34314200-34315400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:34314200-34315400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:34314200-34315400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr22:34314200-34316200	Active TSS	Fetal Kidney	kidney
17	chr22:34314200-34316400	Active TSS	Brain Angular Gyrus	brain
18	chr22:34314200-34318400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:34314200-34319000	Active TSS	Left Ventricle	heart
20	chr22:34314400-34315400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr22:34314400-34316000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:34314400-34316400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr22:34314600-34315400	Weak transcription	Aorta	Aorta
24	chr22:34314600-34315400	Active TSS	Brain Cingulate Gyrus	brain
25	chr22:34314600-34315400	Enhancers	Spleen	Spleen
26	chr22:34314600-34316000	Flanking Active TSS	Ovary	ovary
27	chr22:34314600-34316400	Active TSS	Rectal Smooth Muscle	rectum
28	chr22:34314600-34316400	Active TSS	HSMMtube	muscle
29	chr22:34314800-34315400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:34314800-34315400	Weak transcription	Esophagus	oesophagus
31	chr22:34314800-34315400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr22:34314800-34315400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr22:34314800-34315800	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr22:34314800-34315800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr22:34314800-34316000	Active TSS	Fetal Heart	heart
36	chr22:34314800-34316000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr22:34314800-34316200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr22:34314800-34316400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr22:34314800-34318600	Active TSS	Gastric	stomach
40	chr22:34315000-34315400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr22:34315000-34315400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:34315000-34315400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr22:34315000-34315400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr22:34315000-34315400	Active TSS	Fetal Stomach	stomach
45	chr22:34315000-34315400	Enhancers	Pancreas	Pancrea
46	chr22:34315000-34315600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr22:34315000-34315600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr22:34315000-34315600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr22:34315000-34315600	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr22:34315000-34315600	Flanking Active TSS	Fetal Brain Male	brain

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