Variant report

Variant	rs6815444
Chromosome Location	chr4:99839790-99839791
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99833919..99835830-chr4:99837295..99839831,2	K562	blood:
2	chr4:99838482..99841082-chr4:99841412..99843221,2	K562	blood:
3	chr4:99827732..99830056-chr4:99838507..99841404,2	K562	blood:
4	chr4:99833919..99835946-chr4:99836497..99839831,4	K562	blood:
5	chr4:99829743..99832915-chr4:99838358..99839982,3	K562	blood:

Variant related genes	Relation type
ENSG00000249055	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10007957	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10008093	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10010610	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10011791	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10019506	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10020687	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10022521	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10032966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10212891	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1036946	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10433891	1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10433976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10461135	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10470955	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10516437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11725932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11728783	0.95[ASN][1000 genomes]
rs11737130	0.94[ASN][1000 genomes]
rs11737186	0.94[ASN][1000 genomes]
rs1230147	0.92[ASN][1000 genomes]
rs1230149	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1230150	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230152	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1230189	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs13110531	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17028238	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17028241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17028244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17028293	0.97[ASN][1000 genomes]
rs17550514	1.00[ASN][1000 genomes]
rs2602889	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28367437	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28376834	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28430857	0.97[ASN][1000 genomes]
rs28473608	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28499420	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28529446	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28575093	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28577966	0.97[ASN][1000 genomes]
rs28589528	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28613604	0.97[ASN][1000 genomes]
rs28622595	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28633499	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3133161	0.92[ASN][1000 genomes]
rs35447189	0.91[ASN][1000 genomes]
rs4699370	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60120090	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60658326	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6830125	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6841295	0.97[ASN][1000 genomes]
rs6846266	0.97[ASN][1000 genomes]
rs6846475	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs72677504	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72692622	0.98[ASN][1000 genomes]
rs7660937	0.99[ASN][1000 genomes]
rs7661487	0.97[ASN][1000 genomes]
rs7664964	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7666015	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7671306	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7671453	0.98[ASN][1000 genomes]
rs7674319	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7676504	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7679685	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7684964	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7696573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7696584	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7697071	0.97[ASN][1000 genomes]
rs9332467	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs994636	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9995478	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9996959	0.96[ASN][1000 genomes]
rs9999702	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv879655	chr4:99783733-99843113	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr4:99802800-99849000	Weak transcription	Aorta	Aorta
2	chr4:99804400-99848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:99807200-99849000	Weak transcription	Colonic Mucosa	Colon
4	chr4:99808000-99841400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:99808600-99849000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:99815800-99848200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:99816600-99847200	Weak transcription	Fetal Brain Male	brain
8	chr4:99823000-99841600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:99823000-99842600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:99823000-99845600	Weak transcription	Hela-S3	cervix
11	chr4:99823000-99847200	Weak transcription	Thymus	Thymus
12	chr4:99823000-99848800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:99823000-99849000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:99823000-99849200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:99823200-99847800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:99823200-99848000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:99823200-99848600	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:99823200-99848800	Weak transcription	Placenta	Placenta
19	chr4:99824200-99846800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr4:99825200-99841400	Weak transcription	Psoas Muscle	Psoas
21	chr4:99827000-99841000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:99827000-99848200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:99827200-99846000	Weak transcription	Fetal Intestine Large	intestine
24	chr4:99827600-99846400	Weak transcription	NH-A	brain
25	chr4:99827600-99846600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:99828000-99841200	Weak transcription	Osteobl	bone
27	chr4:99829600-99846800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:99830000-99848200	Weak transcription	Fetal Kidney	kidney
29	chr4:99830200-99846600	Weak transcription	A549	lung
30	chr4:99830400-99841400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:99831000-99849200	Weak transcription	Gastric	stomach
32	chr4:99831200-99839800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:99831200-99841200	Weak transcription	HMEC	breast
34	chr4:99831200-99842600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:99831200-99848000	Weak transcription	Brain Germinal Matrix	brain
36	chr4:99831200-99848000	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:99831400-99841200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:99831400-99848800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:99831600-99841200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:99831600-99842600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:99831600-99847800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:99831800-99847800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr4:99832000-99841200	Weak transcription	NHEK	skin
44	chr4:99832000-99841800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:99832000-99842000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:99832200-99841000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:99832200-99842800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:99832200-99846600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:99832200-99848000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:99832200-99848000	Weak transcription	Duodenum Mucosa	Duodenum

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