Variant report

Variant	rs34260332
Chromosome Location	chr3:119041300-119041301
allele	-/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	chr3:119041258-119042260	A549	lung:	n/a	n/a
2	POLR2A	chr3:119041212-119042480	GM18951	blood:	n/a	n/a
3	HDAC2	chr3:119041299-119041988	H1-hESC	embryonic stem cell:	n/a	n/a
4	SP1	chr3:119041198-119042184	A549	lung:	n/a	chr3:119041681-119041693 chr3:119041678-119041692 chr3:119041684-119041698 chr3:119041795-119041807 chr3:119041293-119041307 chr3:119041682-119041691 chr3:119041797-119041806 chr3:119041419-119041429 chr3:119041795-119041807 chr3:119041796-119041805
5	WRNIP1	chr3:119041253-119041305	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:119040718-119042639	IMR90	lung:	n/a	n/a
7	MAZ	chr3:119041256-119042179	K562	blood:	n/a	chr3:119042031-119042041
8	ZNF263	chr3:119041262-119042548	HEK293-T-REx	kidney:	n/a	chr3:119041626-119041635
9	MAX	chr3:119041247-119041564	K562	blood:	n/a	n/a
10	ZBTB7A	chr3:119041279-119042418	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr3:119041260-119042608	GM18526	blood:	n/a	n/a
12	RELA	chr3:119040978-119042718	GM15510	blood:	n/a	chr3:119042019-119042028 chr3:119042019-119042028
13	POLR2A	chr3:119041191-119042416	PANC-1	pancreas:	n/a	n/a
14	ELF1	chr3:119041161-119042626	GM12878	blood:	n/a	n/a
15	EGR1	chr3:119041254-119042161	H1-hESC	embryonic stem cell:	n/a	chr3:119041397-119041407 chr3:119041792-119041805 chr3:119041416-119041430 chr3:119041397-119041408 chr3:119041393-119041407 chr3:119041397-119041407 chr3:119041396-119041409 chr3:119042088-119042098 chr3:119041396-119041409 chr3:119041396-119041409 chr3:119041397-119041406 chr3:119041395-119041409
16	POLR2A	chr3:119041160-119042349	GM12878	blood:	n/a	n/a
17	POLR2A	chr3:119040800-119042455	GM12878	blood:	n/a	n/a
18	POLR2A	chr3:119041099-119042674	GM12892	blood:	n/a	n/a
19	POLR2A	chr3:119041228-119042384	MCF-7	breast:	n/a	n/a
20	POLR2A	chr3:119041010-119042487	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:119041252-119042259	A549	lung:	n/a	n/a
22	POLR2A	chr3:119041124-119042804	GM12891	blood:	n/a	n/a
23	POLR2A	chr3:119041112-119042314	HUVEC	blood vessel:	n/a	n/a
24	EBF1	chr3:119041209-119041533	GM12878	blood:	n/a	n/a
25	POU2F2	chr3:119041194-119042536	GM12891	blood:	n/a	n/a
26	POLR2A	chr3:119041061-119042721	GM18505	blood:	n/a	n/a
27	MTA3	chr3:119040824-119043149	GM12878	blood:	n/a	n/a
28	MAX	chr3:119041145-119042476	HCT-116	colon:	n/a	chr3:119042031-119042041
29	REST	chr3:119041115-119042498	H1-neurons	neurons:	n/a	chr3:119042184-119042194 chr3:119041382-119041395 chr3:119042182-119042196
30	CTCF	chr3:119041180-119041330	AoAF	blood vessel:	n/a	n/a
31	POLR2A	chr3:119041035-119042495	GM12891	blood:	n/a	n/a
32	SIN3A	chr3:119041183-119042631	H1-hESC	embryonic stem cell:	n/a	chr3:119041382-119041395 chr3:119042179-119042190 chr3:119042183-119042197
33	POLR2A	chr3:119041121-119041565	HUVEC	blood vessel:	n/a	n/a
34	MAZ	chr3:119040868-119042539	IMR90	lung:	n/a	chr3:119042031-119042041
35	POLR2A	chr3:119041047-119042615	GM12891	blood:	n/a	n/a
36	MAX	chr3:119041149-119042362	A549	lung:	n/a	chr3:119042031-119042041
37	CREB1	chr3:119041158-119042651	GM12878	blood:	n/a	n/a
38	CHD1	chr3:119041227-119042428	GM12878	blood:	n/a	n/a
39	EGR1	chr3:119041272-119041610	K562	blood:	n/a	chr3:119041397-119041407 chr3:119041416-119041430 chr3:119041397-119041408 chr3:119041393-119041407 chr3:119041397-119041407 chr3:119041396-119041409 chr3:119041396-119041409 chr3:119041396-119041409 chr3:119041397-119041406 chr3:119041395-119041409
40	POLR2A	chr3:119041291-119042571	GM15510	blood:	n/a	n/a
41	CTCF	chr3:119041300-119041450	HAc	cerebellar:	n/a	n/a
42	STAT1	chr3:119041277-119041477	GM12878	blood:	n/a	n/a
43	RAD21	chr3:119041270-119042405	IMR90	lung:	n/a	chr3:119041734-119041746 chr3:119042155-119042165 chr3:119041300-119041313 chr3:119041732-119041751 chr3:119041735-119041748
44	CHD2	chr3:119041208-119042544	GM12878	blood:	n/a	n/a
45	E2F6	chr3:119041188-119042344	A549	lung:	n/a	chr3:119041792-119041802 chr3:119042026-119042035 chr3:119042234-119042243
46	TAF1	chr3:119041076-119042802	H1-hESC	embryonic stem cell:	n/a	n/a
47	EGR1	chr3:119041071-119042402	HCT-116	colon:	n/a	chr3:119041397-119041407 chr3:119041792-119041805 chr3:119041416-119041430 chr3:119041397-119041408 chr3:119041393-119041407 chr3:119041397-119041407 chr3:119041396-119041409 chr3:119042088-119042098 chr3:119041396-119041409 chr3:119041396-119041409 chr3:119041397-119041406 chr3:119041395-119041409
48	POLR2A	chr3:119041035-119042612	GM12878	blood:	n/a	n/a
49	CTCF	chr3:119041260-119041410	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr3:119041180-119042634	GM19193	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:119040381..119043387-chr3:119393976..119396207,3	K562	blood:
2	chr3:119039655..119042714-chr3:119058706..119061390,3	MCF-7	breast:
3	chr3:119016211..119028042-chr3:119037960..119043695,12	MCF-7	breast:
4	chr3:119012312..119014941-chr3:119040203..119043471,4	MCF-7	breast:
5	chr3:119011662..119015799-chr3:119040784..119043293,4	MCF-7	breast:
6	chr3:119040625..119043456-chr3:119181021..119182647,3	MCF-7	breast:
7	chr3:119040520..119043561-chr3:119060040..119062334,3	MCF-7	breast:

Variant related genes	Relation type
ARHGAP31	TF binding region
ENSG00000138495	Chromatin interaction
ENSG00000207310	Chromatin interaction
ENSG00000031081	Chromatin interaction
ENSG00000242829	Chromatin interaction
ENSG00000176142	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58452475	1.00[AFR][1000 genomes]
rs9816023	1.00[AFR][1000 genomes]
rs9821759	0.90[AFR][1000 genomes]
rs9847369	1.00[AFR][1000 genomes]
rs9872394	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr3:119040600-119041400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr3:119040600-119041400	Flanking Active TSS	Osteobl	bone
3	chr3:119040600-119041600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr3:119040600-119041600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:119040600-119041600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:119040600-119041800	Flanking Active TSS	NH-A	brain
7	chr3:119040600-119042400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:119040600-119042400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr3:119040600-119042600	Flanking Active TSS	HUVEC	blood vessel
10	chr3:119040600-119043000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr3:119040600-119043000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr3:119040800-119041400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:119040800-119041400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr3:119040800-119041400	Flanking Active TSS	A549	lung
15	chr3:119040800-119041600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:119040800-119041600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr3:119040800-119041600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr3:119040800-119041600	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr3:119040800-119041800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr3:119040800-119041800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:119040800-119042200	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr3:119040800-119042400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:119040800-119042400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:119040800-119042600	Flanking Active TSS	Dnd41	blood
25	chr3:119040800-119042800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr3:119041000-119041400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr3:119041000-119041400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:119041000-119041400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr3:119041000-119041400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:119041000-119041400	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr3:119041000-119041400	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr3:119041000-119041400	Flanking Active TSS	Fetal Heart	heart
33	chr3:119041000-119041400	Flanking Active TSS	Fetal Stomach	stomach
34	chr3:119041000-119041400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
35	chr3:119041000-119041400	Flanking Active TSS	NHDF-Ad	bronchial
36	chr3:119041000-119041600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr3:119041000-119041600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:119041000-119041600	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr3:119041000-119041600	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr3:119041000-119041600	Flanking Active TSS	Esophagus	oesophagus
41	chr3:119041000-119041600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr3:119041000-119041600	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr3:119041000-119041600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr3:119041000-119041600	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr3:119041000-119041600	Flanking Active TSS	Right Atrium	heart
46	chr3:119041000-119041600	Flanking Active TSS	Thymus	Thymus
47	chr3:119041000-119041600	Flanking Active TSS	HSMM	muscle
48	chr3:119041000-119041600	Flanking Active TSS	HSMMtube	muscle
49	chr3:119041000-119041800	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr3:119041000-119041800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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