Variant report

Variant	rs34546633
Chromosome Location	chr4:129208033-129208034
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr4:129207540-129208436	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr4:129207599-129208320	A549	lung:	n/a	n/a
3	POLR2A	chr4:129207711-129210246	GM18951	blood:	n/a	n/a
4	POLR2A	chr4:129207382-129208172	PBDE	blood:	n/a	n/a
5	E2F4	chr4:129207276-129208170	MCF10A-Er-Src	breast:	n/a	chr4:129207550-129207567
6	MXI1	chr4:129207605-129208125	K562	blood:	n/a	n/a
7	POLR2A	chr4:129207485-129208169	SK-N-MC	brain:	n/a	n/a
8	UBTF	chr4:129207914-129210111	K562	blood:	n/a	n/a
9	POLR2A	chr4:129207453-129210280	HepG2	liver:	n/a	n/a
10	HEY1	chr4:129207496-129208095	HepG2	liver:	n/a	n/a
11	TAF1	chr4:129207724-129208067	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZNF143	chr4:129207640-129208184	GM12878	blood:	n/a	chr4:129207772-129207790
13	POLR2A	chr4:129207721-129208126	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr4:129207540-129208089	HepG2	liver:	n/a	n/a
15	POLR2A	chr4:129207712-129208101	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr4:129207628-129208091	SK-N-SH	brain:	n/a	n/a
17	NR2F2	chr4:129207583-129208374	K562	blood:	n/a	n/a
18	SMARCB1	chr4:129207867-129209820	Hela-S3	cervix:	n/a	n/a
19	MAZ	chr4:129207095-129210225	IMR90	lung:	n/a	chr4:129209048-129209058 chr4:129209152-129209162 chr4:129209110-129209120
20	ZNF384	chr4:129207500-129208276	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:129207227-129208070	GM12878	blood:	n/a	n/a
22	MXI1	chr4:129207776-129208038	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr4:129207612-129208101	Hela-S3	cervix:	n/a	n/a
24	MXI1	chr4:129207543-129208162	GM12878	blood:	n/a	n/a
25	CTCF	chr4:129207900-129208050	GM12873	blood:	n/a	n/a
26	POLR2A	chr4:129207393-129208309	MCF10A-Er-Src	breast:	n/a	n/a
27	MTA3	chr4:129207675-129208303	GM12878	blood:	n/a	n/a
28	POLR2A	chr4:129207173-129211125	IMR90	lung:	n/a	n/a
29	SIN3A	chr4:129207494-129210278	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr4:129207737-129208083	MCF-7	breast:	n/a	n/a
31	POLR2A	chr4:129207094-129208293	K562	blood:	n/a	n/a
32	TBP	chr4:129207577-129208137	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr4:129207684-129210259	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr4:129207640-129208060	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr4:129207635-129208044	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr4:129208029-129208094	K562	blood:	n/a	n/a
37	POLR2A	chr4:129207682-129208054	HUVEC	blood vessel:	n/a	n/a
38	RCOR1	chr4:129207776-129210388	IMR90	lung:	n/a	n/a
39	POLR2A	chr4:129207557-129210389	GM12878	blood:	n/a	n/a
40	MYC	chr4:129207636-129208120	K562	blood:	n/a	n/a
41	POLR2A	chr4:129207527-129208136	HepG2	liver:	n/a	n/a
42	MAX	chr4:129207579-129208074	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr4:129207552-129210483	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAZ	chr4:129207469-129208073	K562	blood:	n/a	n/a
45	TBP	chr4:129207648-129208068	K562	blood:	n/a	n/a
46	MAX	chr4:129207639-129210352	A549	lung:	n/a	chr4:129209048-129209058 chr4:129209152-129209162 chr4:129209110-129209120
47	TBP	chr4:129207677-129208084	HepG2	liver:	n/a	n/a
48	MXI1	chr4:129206440-129210496	SK-N-SH	brain:	n/a	chr4:129209521-129209530
49	RAD21	chr4:129207512-129210242	IMR90	lung:	n/a	chr4:129208976-129208986 chr4:129209747-129209761
50	ZNF384	chr4:129207273-129208411	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:129207739..129209319-chr4:129473480..129475503,2	MCF-7	breast:
2	chr4:129206178..129209498-chr4:129731212..129733921,5	K562	blood:
3	chr4:128981725..128985397-chr4:129207989..129209697,3	K562	blood:
4	chr4:128981698..128985397-chr4:129207989..129210555,4	K562	blood:
5	chr4:128980817..128984026-chr4:129207052..129210590,3	MCF-7	breast:
6	chr4:129191253..129196346-chr4:129207111..129210585,6	MCF-7	breast:
7	chr4:129206178..129209105-chr4:129728853..129732712,4	K562	blood:
8	chr4:129207558..129209105-chr4:129728853..129730896,2	K562	blood:

No data

Variant related genes	Relation type
PGRMC2	TF binding region
ENSG00000164040	Chromatin interaction
ENSG00000138709	Chromatin interaction
ENSG00000273077	Chromatin interaction
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	esv3421519	chr4:129208027-129210875	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr4:129204800-129210800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:129205200-129208200	Flanking Active TSS	Liver	Liver
3	chr4:129205200-129210000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:129205400-129208600	Active TSS	Stomach Mucosa	stomach
5	chr4:129205400-129209800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:129205600-129210400	Active TSS	Fetal Intestine Small	intestine
7	chr4:129205600-129210600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr4:129205800-129209800	Active TSS	Duodenum Mucosa	Duodenum
9	chr4:129205800-129210000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:129205800-129210200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr4:129205800-129210200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr4:129205800-129210600	Active TSS	Fetal Brain Female	brain
13	chr4:129206000-129208200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:129206000-129209200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:129206000-129209800	Active TSS	HSMMtube	muscle
16	chr4:129206000-129210000	Active TSS	Fetal Stomach	stomach
17	chr4:129206000-129210000	Active TSS	NHLF	lung
18	chr4:129206000-129210200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr4:129206000-129210200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:129206000-129210400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:129206000-129210400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr4:129206000-129210400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr4:129206000-129210400	Active TSS	Fetal Intestine Large	intestine
24	chr4:129206000-129210400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr4:129206000-129210600	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr4:129206000-129210600	Active TSS	A549	lung
27	chr4:129206200-129208400	Active TSS	Right Atrium	heart
28	chr4:129206200-129209800	Active TSS	Rectal Smooth Muscle	rectum
29	chr4:129206200-129209800	Active TSS	Hela-S3	cervix
30	chr4:129206200-129209800	Active TSS	HSMM	muscle
31	chr4:129206200-129210200	Active TSS	Colonic Mucosa	Colon
32	chr4:129206200-129210400	Active TSS	Right Ventricle	heart
33	chr4:129206400-129208200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:129206400-129208200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:129206400-129209800	Active TSS	H1 Cell Line	embryonic stem cell
36	chr4:129206400-129210000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:129206400-129210000	Active TSS	NHDF-Ad	bronchial
38	chr4:129206400-129210200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:129206400-129210400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:129206600-129209600	Active TSS	Placenta	Placenta
41	chr4:129206600-129210000	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr4:129206600-129210200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr4:129206800-129208400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr4:129206800-129209600	Active TSS	HMEC	breast
45	chr4:129206800-129209800	Active TSS	Muscle Satellite Cultured Cells	--
46	chr4:129206800-129210000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:129206800-129210000	Active TSS	Brain Germinal Matrix	brain
48	chr4:129206800-129210200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:129206800-129210200	Active TSS	Ovary	ovary
50	chr4:129206800-129210400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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