Variant report

Variant	rs7686991
Chromosome Location	chr4:100852713-100852714
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:
2	chr4:100851997..100854259-chr4:100861223..100863842,2	K562	blood:
3	chr4:100814281..100816576-chr4:100852313..100854892,3	K562	blood:
4	chr4:100848205..100853069-chr4:100866591..100869335,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164031	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000164032	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs7655944	1.00[AFR][1000 genomes]
rs7670911	1.00[AFR][1000 genomes]
rs7672704	1.00[AFR][1000 genomes]
rs7688284	1.00[AFR][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:104 , 50 per page) page: 1 2 3

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	chr4:100816200-100853600	Weak transcription	NHLF	lung
4	chr4:100816200-100866200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:100820000-100866200	Weak transcription	Fetal Heart	heart
6	chr4:100824000-100865800	Weak transcription	Psoas Muscle	Psoas
7	chr4:100824400-100866000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:100824800-100854200	Weak transcription	Brain Anterior Caudate	brain
9	chr4:100827600-100856400	Weak transcription	Brain Substantia Nigra	brain
10	chr4:100828800-100866200	Weak transcription	Stomach Mucosa	stomach
11	chr4:100829200-100856400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:100829200-100866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:100829400-100856200	Weak transcription	HepG2	liver
14	chr4:100829600-100866200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:100836600-100856800	Weak transcription	Spleen	Spleen
16	chr4:100839200-100855600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:100839200-100857400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:100840000-100852800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr4:100840000-100862600	Weak transcription	K562	blood
20	chr4:100840200-100854000	Weak transcription	Brain Germinal Matrix	brain
21	chr4:100840200-100864600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:100840200-100865800	Weak transcription	Ovary	ovary
23	chr4:100840200-100866000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:100840200-100867000	Weak transcription	Gastric	stomach
25	chr4:100840400-100855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:100840400-100855200	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:100840400-100856400	Weak transcription	Fetal Kidney	kidney
28	chr4:100840400-100856400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:100840400-100856800	Weak transcription	Thymus	Thymus
30	chr4:100840400-100864600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:100840400-100866800	Weak transcription	Aorta	Aorta
32	chr4:100840400-100867000	Weak transcription	Esophagus	oesophagus
33	chr4:100840600-100862200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:100840800-100854600	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:100840800-100854800	Weak transcription	Fetal Lung	lung
36	chr4:100840800-100855600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:100840800-100858200	Weak transcription	Fetal Stomach	stomach
38	chr4:100842600-100853800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:100843400-100856200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:100844200-100856400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:100844800-100856400	Weak transcription	NH-A	brain
42	chr4:100846000-100854000	Weak transcription	NHDF-Ad	bronchial
43	chr4:100847600-100856400	Weak transcription	Brain Angular Gyrus	brain
44	chr4:100847800-100856400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:100847800-100864600	Weak transcription	Hela-S3	cervix
46	chr4:100847800-100866200	Weak transcription	HSMMtube	muscle
47	chr4:100848400-100856600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:100848400-100866200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr4:100849200-100853400	Weak transcription	Adipose Nuclei	Adipose
50	chr4:100849400-100855200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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