Variant report

Variant	rs16844136
Chromosome Location	chr4:3307759-3307760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:3307039-3307886	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr4:3307297-3307806	K562	blood:	n/a	n/a
3	RCOR1	chr4:3307268-3307811	K562	blood:	n/a	n/a
4	JUN	chr4:3307152-3307834	HUVEC	blood vessel:	n/a	n/a
5	JUN	chr4:3307337-3307939	K562	blood:	n/a	n/a
6	MYC	chr4:3307152-3307762	HUVEC	blood vessel:	n/a	n/a
7	TAL1	chr4:3307386-3307780	K562	blood:	n/a	n/a
8	POLR2A	chr4:3307198-3307924	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr4:3307332-3307825	K562	blood:	n/a	n/a
10	EP300	chr4:3307413-3307923	K562	blood:	n/a	n/a
11	POLR2A	chr4:3307314-3307779	HUVEC	blood vessel:	n/a	n/a
12	ATF1	chr4:3307432-3307768	K562	blood:	n/a	n/a
13	ELF1	chr4:3307272-3307816	K562	blood:	n/a	n/a
14	JUND	chr4:3307329-3307770	K562	blood:	n/a	n/a
15	GATA1	chr4:3307302-3307913	PBDE	blood:	n/a	n/a
16	POLR2A	chr4:3307273-3307773	HUVEC	blood vessel:	n/a	n/a
17	FOS	chr4:3307264-3307807	HUVEC	blood vessel:	n/a	chr4:3307550-3307561
18	MAX	chr4:3307238-3307828	NB4	blood:	n/a	n/a
19	PML	chr4:3307393-3307789	K562	blood:	n/a	n/a
20	GABPA	chr4:3307330-3307780	K562	blood:	n/a	n/a
21	POLR2A	chr4:3307362-3307789	HL-60	blood:	n/a	n/a
22	TEAD4	chr4:3307276-3307837	K562	blood:	n/a	n/a
23	GATA2	chr4:3306215-3307926	HUVEC	blood vessel:	n/a	chr4:3306443-3306454
24	NR2F2	chr4:3307264-3307840	K562	blood:	n/a	n/a
25	NR2F2	chr4:3307336-3307782	K562	blood:	n/a	n/a
26	POLR2A	chr4:3307265-3307835	HUVEC	blood vessel:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3297413..3300399-chr4:3305342..3309576,4	MCF-7	breast:
2	chr4:3301249..3303803-chr4:3305446..3308056,2	MCF-7	breast:
3	chr4:3297687..3301019-chr4:3306995..3308843,3	K562	blood:
4	chr4:3307561..3309945-chr4:3316347..3319248,2	MCF-7	breast:
5	chr4:3293251..3296512-chr4:3305842..3309963,7	MCF-7	breast:
6	chr4:3299967..3302345-chr4:3306185..3308779,2	MCF-7	breast:

No data

Variant related genes	Relation type
RGS12	TF binding region
ENSG00000159788	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11930854	1.00[EUR][1000 genomes]
rs16844163	1.00[CEU][hapmap]
rs16844166	1.00[CEU][hapmap]
rs16844169	1.00[CEU][hapmap]
rs16844176	1.00[CEU][hapmap]
rs16844192	1.00[EUR][1000 genomes]
rs16844195	1.00[EUR][1000 genomes]
rs16844204	1.00[EUR][1000 genomes]
rs16844219	1.00[EUR][1000 genomes]
rs16844223	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16844335	1.00[CEU][hapmap]
rs16844394	1.00[EUR][1000 genomes]
rs16844398	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs41329644	1.00[CEU][hapmap]
rs41347150	1.00[CEU][hapmap]
rs6814892	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6826787	1.00[CEU][hapmap]
rs6855975	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7657430	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7663472	1.00[EUR][1000 genomes]
rs7664128	1.00[EUR][1000 genomes]
rs7673434	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7677740	1.00[EUR][1000 genomes]
rs7691619	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv998290	chr4:3176454-3355758	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv878455	chr4:3215835-3344891	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv878459	chr4:3235518-3310831	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv878461	chr4:3270488-3339038	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv593440	chr4:3283422-3339038	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv461165	chr4:3283422-3342137	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv593441	chr4:3283422-3342137	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3294600-3308800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:3296600-3318600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:3299200-3310000	Enhancers	HUVEC	blood vessel
4	chr4:3299600-3318600	Weak transcription	Aorta	Aorta
5	chr4:3300800-3309000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr4:3301000-3310400	Enhancers	Fetal Muscle Leg	muscle
7	chr4:3301200-3350000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:3301600-3312400	Enhancers	Fetal Muscle Trunk	muscle
9	chr4:3303000-3308000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:3303200-3310800	Enhancers	Fetal Brain Male	brain
11	chr4:3303600-3310600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:3304000-3313000	Weak transcription	HepG2	liver
13	chr4:3304200-3308000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr4:3304200-3310600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:3304400-3308400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:3304400-3309800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:3304400-3310600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:3304600-3309000	Enhancers	Primary hematopoietic stem cells	blood
19	chr4:3304800-3308400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:3304800-3308600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:3304800-3318600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:3305000-3308000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:3305000-3308000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr4:3305000-3308200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr4:3305000-3308600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr4:3305000-3309000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:3305000-3309200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr4:3305200-3308000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr4:3305200-3308200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr4:3305400-3308000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:3305400-3308000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr4:3305400-3308000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:3305400-3308200	Enhancers	Fetal Stomach	stomach
34	chr4:3305400-3308400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr4:3305400-3308400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr4:3305600-3308000	Bivalent Enhancer	Thymus	Thymus
37	chr4:3305600-3308200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:3305600-3308200	Enhancers	Fetal Heart	heart
39	chr4:3305600-3308600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:3306000-3308000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:3306000-3309800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:3306000-3310400	Enhancers	Spleen	Spleen
43	chr4:3306200-3307800	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr4:3306200-3308200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:3306200-3308200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr4:3306200-3308200	Enhancers	Esophagus	oesophagus
47	chr4:3306200-3308200	Enhancers	NHLF	lung
48	chr4:3306200-3308400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:3306200-3308600	Enhancers	Left Ventricle	heart
50	chr4:3306400-3308000	Enhancers	Osteobl	bone

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