Variant report

Variant	rs72684384
Chromosome Location	chr4:100855472-100855473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100855332..100857889-chr4:100866716..100868581,2	MCF-7	breast:
2	chr4:100854185..100858103-chr4:100869055..100872773,4	MCF-7	breast:
3	chr4:100855120..100857614-chr4:100862703..100864671,2	K562	blood:
4	chr4:100830733..100833112-chr4:100854057..100856497,2	K562	blood:

Variant related genes	Relation type
ENSG00000245322	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000164032	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35592608	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71614623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv879661	chr4:100805207-100869635	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv879662	chr4:100849466-100876648	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:100816000-100867000	Weak transcription	Lung	lung
3	chr4:100816200-100866200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:100820000-100866200	Weak transcription	Fetal Heart	heart
5	chr4:100824000-100865800	Weak transcription	Psoas Muscle	Psoas
6	chr4:100824400-100866000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:100827600-100856400	Weak transcription	Brain Substantia Nigra	brain
8	chr4:100828800-100866200	Weak transcription	Stomach Mucosa	stomach
9	chr4:100829200-100856400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:100829200-100866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:100829400-100856200	Weak transcription	HepG2	liver
12	chr4:100829600-100866200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:100836600-100856800	Weak transcription	Spleen	Spleen
14	chr4:100839200-100855600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:100839200-100857400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:100840000-100862600	Weak transcription	K562	blood
17	chr4:100840200-100864600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:100840200-100865800	Weak transcription	Ovary	ovary
19	chr4:100840200-100866000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:100840200-100867000	Weak transcription	Gastric	stomach
21	chr4:100840400-100856400	Weak transcription	Fetal Kidney	kidney
22	chr4:100840400-100856400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:100840400-100856800	Weak transcription	Thymus	Thymus
24	chr4:100840400-100864600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:100840400-100866800	Weak transcription	Aorta	Aorta
26	chr4:100840400-100867000	Weak transcription	Esophagus	oesophagus
27	chr4:100840600-100862200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:100840800-100855600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:100840800-100858200	Weak transcription	Fetal Stomach	stomach
30	chr4:100843400-100856200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:100844200-100856400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:100844800-100856400	Weak transcription	NH-A	brain
33	chr4:100847600-100856400	Weak transcription	Brain Angular Gyrus	brain
34	chr4:100847800-100856400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:100847800-100864600	Weak transcription	Hela-S3	cervix
36	chr4:100847800-100866200	Weak transcription	HSMMtube	muscle
37	chr4:100848400-100856600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:100848400-100866200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr4:100849600-100864800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr4:100849800-100856400	Weak transcription	Osteobl	bone
41	chr4:100850400-100856400	Weak transcription	Primary T cells from cord blood	blood
42	chr4:100850400-100864800	Weak transcription	HUVEC	blood vessel
43	chr4:100850600-100856400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:100850600-100856400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:100850600-100856400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:100851000-100856200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:100851000-100856200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:100851800-100855600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:100851800-100856000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:100851800-100856200	Weak transcription	Dnd41	blood

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