Variant report

Variant	rs552623718
Chromosome Location	chr22:34316255-34316256
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	CTCF	chr22:34316218-34316262	GM12892	blood:	n/a	n/a
2	TAF1	chr22:34316130-34316454	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:34315265-34316363	GM12892	blood:	n/a	n/a
4	POLR2A	chr22:34316208-34317428	NB4	blood:	n/a	n/a
5	E2F4	chr22:34316175-34316366	MCF10A-Er-Src	breast:	n/a	n/a
6	MXI1	chr22:34315329-34318225	IMR90	lung:	n/a	n/a
7	POLR2A	chr22:34316079-34316478	MCF-7	breast:	n/a	n/a
8	CHD2	chr22:34316198-34316291	GM12878	blood:	n/a	n/a
9	POLR2A	chr22:34315348-34317475	GM12892	blood:	n/a	n/a
10	CHD1	chr22:34315387-34316282	H1-hESC	embryonic stem cell:	n/a	chr22:34315519-34315529
11	ZNF143	chr22:34315510-34316287	GM12878	blood:	n/a	chr22:34315939-34315957
12	MXI1	chr22:34316231-34316447	HepG2	liver:	n/a	n/a
13	POLR2A	chr22:34315192-34316453	GM12878	blood:	n/a	n/a
14	SIN3A	chr22:34313786-34316435	H1-hESC	embryonic stem cell:	n/a	chr22:34316084-34316093 chr22:34316219-34316228
15	CTCF	chr22:34315436-34316329	GM12878	blood:	n/a	n/a
16	POLR2A	chr22:34315161-34316304	GM12892	blood:	n/a	n/a
17	POLR2A	chr22:34315226-34316509	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr22:34315533-34317458	GM15510	blood:	n/a	n/a
19	POLR2A	chr22:34315289-34316574	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr22:34315411-34316454	GM12878	blood:	n/a	n/a
21	SIN3AK20	chr22:34316186-34316433	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr22:34315337-34317736	GM18505	blood:	n/a	n/a
23	POLR2A	chr22:34315116-34316265	GM12878	blood:	n/a	n/a
24	POLR2A	chr22:34315233-34316599	GM12892	blood:	n/a	n/a
25	POLR2A	chr22:34315365-34316512	GM12878	blood:	n/a	n/a
26	ELF1	chr22:34315386-34316493	GM12878	blood:	n/a	chr22:34316041-34316050 chr22:34316033-34316042 chr22:34316194-34316205
27	RAD21	chr22:34315263-34316510	IMR90	lung:	n/a	chr22:34315668-34315677 chr22:34316218-34316232
28	MAZ	chr22:34315936-34319280	IMR90	lung:	n/a	chr22:34318134-34318144

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	chr22:34283913..34285789-chr22:34315526..34317915,2	MCF-7	breast:

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
10	esv3513361	chr22:34315502-34318800	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3513362	chr22:34315502-34318800	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv3440277	chr22:34315777-34318325	Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34313600-34319000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:34313800-34316400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr22:34313800-34319200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr22:34314000-34319000	Active TSS	Right Atrium	heart
5	chr22:34314200-34316400	Active TSS	Brain Angular Gyrus	brain
6	chr22:34314200-34318400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:34314200-34319000	Active TSS	Left Ventricle	heart
8	chr22:34314400-34316400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr22:34314600-34316400	Active TSS	Rectal Smooth Muscle	rectum
10	chr22:34314600-34316400	Active TSS	HSMMtube	muscle
11	chr22:34314800-34316400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr22:34314800-34318600	Active TSS	Gastric	stomach
13	chr22:34315000-34316400	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr22:34315000-34316400	Active TSS	Fetal Intestine Large	intestine
15	chr22:34315000-34316400	Active TSS	Fetal Intestine Small	intestine
16	chr22:34315000-34316400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr22:34315000-34316400	Active TSS	GM12878-XiMat	blood
18	chr22:34315000-34319200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr22:34315000-34319200	Active TSS	Psoas Muscle	Psoas
20	chr22:34315200-34316400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:34315200-34316400	Active TSS	NHDF-Ad	bronchial
22	chr22:34315200-34318600	Active TSS	HSMM	muscle
23	chr22:34315200-34318800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:34315200-34318800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr22:34315200-34318800	Active TSS	NHLF	lung
26	chr22:34315200-34319000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:34315200-34319200	Active TSS	H1 Cell Line	embryonic stem cell
28	chr22:34315200-34319200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr22:34315200-34319400	Active TSS	Right Ventricle	heart
30	chr22:34315400-34316400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr22:34315400-34316400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr22:34315400-34316400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
33	chr22:34315400-34316400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
34	chr22:34315400-34316400	Bivalent/Poised TSS	Fetal Thymus	thymus
35	chr22:34315400-34317400	Active TSS	HepG2	liver
36	chr22:34315400-34318600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:34315400-34318600	Active TSS	Lung	lung
38	chr22:34315400-34319000	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr22:34315400-34319200	Active TSS	Aorta	Aorta
40	chr22:34315600-34316400	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr22:34315600-34316400	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr22:34315600-34316400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
43	chr22:34315600-34316400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr22:34315600-34316400	Active TSS	Brain Anterior Caudate	brain
45	chr22:34315600-34316400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:34315600-34316400	Active TSS	Colon Smooth Muscle	Colon
47	chr22:34315600-34316400	Active TSS	Placenta Amnion	Placenta Amnion
48	chr22:34315600-34317200	Bivalent/Poised TSS	Thymus	Thymus
49	chr22:34315600-34317400	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr22:34315600-34318200	Active TSS	Small Intestine	intestine

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