Variant report

Variant	rs540474112
Chromosome Location	chr22:34316099-34316100
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	POLR2A	chr22:34315265-34316363	GM12892	blood:	n/a	n/a
2	MXI1	chr22:34315329-34318225	IMR90	lung:	n/a	n/a
3	POLR2A	chr22:34315470-34316139	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr22:34316079-34316478	MCF-7	breast:	n/a	n/a
5	POLR2A	chr22:34315348-34317475	GM12892	blood:	n/a	n/a
6	CHD1	chr22:34315387-34316282	H1-hESC	embryonic stem cell:	n/a	chr22:34315519-34315529
7	ZNF143	chr22:34315510-34316287	GM12878	blood:	n/a	chr22:34315939-34315957
8	POLR2A	chr22:34315192-34316453	GM12878	blood:	n/a	n/a
9	SIN3A	chr22:34313786-34316435	H1-hESC	embryonic stem cell:	n/a	chr22:34316084-34316093 chr22:34316219-34316228
10	CTCF	chr22:34315436-34316329	GM12878	blood:	n/a	n/a
11	POLR2A	chr22:34315161-34316304	GM12892	blood:	n/a	n/a
12	POLR2A	chr22:34315226-34316509	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr22:34315533-34317458	GM15510	blood:	n/a	n/a
14	POLR2A	chr22:34315289-34316574	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr22:34315411-34316454	GM12878	blood:	n/a	n/a
16	POLR2A	chr22:34315337-34317736	GM18505	blood:	n/a	n/a
17	POLR2A	chr22:34315116-34316265	GM12878	blood:	n/a	n/a
18	POLR2A	chr22:34315233-34316599	GM12892	blood:	n/a	n/a
19	POLR2A	chr22:34315365-34316512	GM12878	blood:	n/a	n/a
20	ELF1	chr22:34315386-34316493	GM12878	blood:	n/a	chr22:34316041-34316050 chr22:34316033-34316042 chr22:34316194-34316205
21	RAD21	chr22:34315263-34316510	IMR90	lung:	n/a	chr22:34315668-34315677 chr22:34316218-34316232
22	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:120 , 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	chr22:34314200-34316200	Active TSS	Fetal Kidney	kidney
6	chr22:34314200-34316400	Active TSS	Brain Angular Gyrus	brain
7	chr22:34314200-34318400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:34314200-34319000	Active TSS	Left Ventricle	heart
9	chr22:34314400-34316400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr22:34314600-34316400	Active TSS	Rectal Smooth Muscle	rectum
11	chr22:34314600-34316400	Active TSS	HSMMtube	muscle
12	chr22:34314800-34316200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr22:34314800-34316400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr22:34314800-34318600	Active TSS	Gastric	stomach
15	chr22:34315000-34316400	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr22:34315000-34316400	Active TSS	Fetal Intestine Large	intestine
17	chr22:34315000-34316400	Active TSS	Fetal Intestine Small	intestine
18	chr22:34315000-34316400	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr22:34315000-34316400	Active TSS	GM12878-XiMat	blood
20	chr22:34315000-34319200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:34315000-34319200	Active TSS	Psoas Muscle	Psoas
22	chr22:34315200-34316200	Flanking Active TSS	HMEC	breast
23	chr22:34315200-34316400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:34315200-34316400	Active TSS	NHDF-Ad	bronchial
25	chr22:34315200-34318600	Active TSS	HSMM	muscle
26	chr22:34315200-34318800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr22:34315200-34318800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr22:34315200-34318800	Active TSS	NHLF	lung
29	chr22:34315200-34319000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:34315200-34319200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr22:34315200-34319200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr22:34315200-34319400	Active TSS	Right Ventricle	heart
33	chr22:34315400-34316200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr22:34315400-34316200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr22:34315400-34316200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr22:34315400-34316200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr22:34315400-34316200	Flanking Bivalent TSS/Enh	Placenta	Placenta
38	chr22:34315400-34316200	Active TSS	Stomach Mucosa	stomach
39	chr22:34315400-34316400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr22:34315400-34316400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:34315400-34316400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr22:34315400-34316400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr22:34315400-34316400	Bivalent/Poised TSS	Fetal Thymus	thymus
44	chr22:34315400-34317400	Active TSS	HepG2	liver
45	chr22:34315400-34318600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr22:34315400-34318600	Active TSS	Lung	lung
47	chr22:34315400-34319000	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr22:34315400-34319200	Active TSS	Aorta	Aorta
49	chr22:34315600-34316200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
50	chr22:34315600-34316200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

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