Variant report

Variant	rs6847711
Chromosome Location	chr4:3308008-3308009
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:

Variant related genes	Relation type
ENSG00000159788	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1119290	1.00[AMR][1000 genomes]
rs1119291	1.00[AMR][1000 genomes]
rs16844191	1.00[AMR][1000 genomes]
rs16844226	1.00[AMR][1000 genomes]
rs6825065	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6832960	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7676111	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7690736	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7692870	1.00[AMR][1000 genomes]
rs878002	1.00[AMR][1000 genomes]
rs878003	1.00[AMR][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:106 , 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	chr4:3303200-3310800	Enhancers	Fetal Brain Male	brain
10	chr4:3303600-3310600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:3304000-3313000	Weak transcription	HepG2	liver
12	chr4:3304200-3310600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:3304400-3308400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:3304400-3309800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:3304400-3310600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:3304600-3309000	Enhancers	Primary hematopoietic stem cells	blood
17	chr4:3304800-3308400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:3304800-3308600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:3304800-3318600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:3305000-3308200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr4:3305000-3308600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr4:3305000-3309000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:3305000-3309200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:3305200-3308200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr4:3305400-3308200	Enhancers	Fetal Stomach	stomach
26	chr4:3305400-3308400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr4:3305400-3308400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr4:3305600-3308200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:3305600-3308200	Enhancers	Fetal Heart	heart
30	chr4:3305600-3308600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:3306000-3309800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:3306000-3310400	Enhancers	Spleen	Spleen
33	chr4:3306200-3308200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:3306200-3308200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:3306200-3308200	Enhancers	Esophagus	oesophagus
36	chr4:3306200-3308200	Enhancers	NHLF	lung
37	chr4:3306200-3308400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:3306200-3308600	Enhancers	Left Ventricle	heart
39	chr4:3306400-3308400	Enhancers	HSMM	muscle
40	chr4:3306400-3308600	Enhancers	HSMMtube	muscle
41	chr4:3306600-3308200	Enhancers	Gastric	stomach
42	chr4:3306600-3308200	Enhancers	K562	blood
43	chr4:3306600-3308400	Enhancers	Right Ventricle	heart
44	chr4:3306600-3308400	Enhancers	Stomach Mucosa	stomach
45	chr4:3306600-3309800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:3306600-3312600	Enhancers	Lung	lung
47	chr4:3306600-3320600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr4:3306800-3308200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr4:3306800-3308400	Enhancers	Primary B cells from peripheral blood	blood
50	chr4:3306800-3308400	Enhancers	Right Atrium	heart

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