Variant report

Variant	rs6817805
Chromosome Location	chr4:102258923-102258924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:102254449..102259198-chr4:102265596..102269977,6	MCF-7	breast:
2	chr4:102252145..102254033-chr4:102258356..102260817,2	MCF-7	breast:
3	chr4:102221934..102223732-chr4:102258287..102261196,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254531	Chromatin interaction
ENSG00000138814	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10014486	0.85[ASN][1000 genomes]
rs11945941	1.00[ASN][1000 genomes]
rs1372244	0.81[AFR][1000 genomes]
rs1441431	0.82[AFR][1000 genomes]
rs1561722	0.82[AFR][1000 genomes]
rs17031172	0.82[AFR][1000 genomes]
rs17031175	0.82[AFR][1000 genomes]
rs17031176	0.82[AFR][1000 genomes]
rs17031180	0.82[AFR][1000 genomes]
rs17031182	0.82[AFR][1000 genomes]
rs1837771	0.85[ASN][1000 genomes]
rs2119597	0.95[ASN][1000 genomes]
rs2165503	0.85[ASN][1000 genomes]
rs28360831	0.85[ASN][1000 genomes]
rs28536504	0.85[ASN][1000 genomes]
rs28660297	1.00[ASN][1000 genomes]
rs28694583	0.85[ASN][1000 genomes]
rs28704863	0.85[ASN][1000 genomes]
rs28827307	0.85[ASN][1000 genomes]
rs28888113	0.85[ASN][1000 genomes]
rs3789755	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3974659	0.82[AFR][1000 genomes]
rs4488940	0.81[AFR][1000 genomes]
rs4504259	0.81[AFR][1000 genomes]
rs55667372	0.81[AFR][1000 genomes]
rs55859752	0.85[ASN][1000 genomes]
rs58296360	0.85[ASN][1000 genomes]
rs58629361	0.81[AFR][1000 genomes]
rs59224049	0.81[AFR][1000 genomes]
rs59763039	0.81[AFR][1000 genomes]
rs60438397	0.81[AFR][1000 genomes]
rs60984918	0.82[AFR][1000 genomes]
rs6532924	0.86[YRI][hapmap];0.89[AFR][1000 genomes]
rs6532925	0.82[AFR][1000 genomes]
rs6810812	0.81[AFR][1000 genomes]
rs6812094	0.82[AFR][1000 genomes]
rs6827528	0.81[AFR][1000 genomes]
rs6828025	0.81[AFR][1000 genomes]
rs6830390	0.81[AFR][1000 genomes]
rs6831471	0.82[AFR][1000 genomes]
rs6831824	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6832020	0.82[AFR][1000 genomes]
rs6837858	0.82[AFR][1000 genomes]
rs6842191	0.82[AFR][1000 genomes]
rs6846554	0.87[AFR][1000 genomes]
rs6852282	0.82[AFR][1000 genomes]
rs72923706	0.90[ASN][1000 genomes]
rs72930867	0.85[ASN][1000 genomes]
rs73835923	0.80[AFR][1000 genomes]
rs73835934	0.82[AFR][1000 genomes]
rs73835935	0.82[AFR][1000 genomes]
rs73835937	0.82[AFR][1000 genomes]
rs73835938	0.82[AFR][1000 genomes]
rs73835939	0.81[AFR][1000 genomes]
rs73835940	0.81[AFR][1000 genomes]
rs73835941	0.81[AFR][1000 genomes]
rs7661895	0.82[AFR][1000 genomes]
rs7664396	0.82[AFR][1000 genomes]
rs7697450	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv879676	chr4:102202285-102340930	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102249600-102266400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:102250200-102265200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:102250400-102265800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:102250600-102266000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:102251000-102260200	Weak transcription	Brain Anterior Caudate	brain
6	chr4:102251200-102259600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:102251200-102265800	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:102252000-102265800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:102252200-102266000	Weak transcription	Fetal Lung	lung
10	chr4:102252800-102266400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:102254000-102266600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:102255200-102266400	Weak transcription	Gastric	stomach
13	chr4:102255400-102266600	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:102256000-102259600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr4:102256400-102265800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr4:102256600-102259600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:102256600-102264400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:102256600-102266000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:102256800-102265800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:102256800-102266200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:102257000-102260200	Weak transcription	Right Atrium	heart
22	chr4:102257000-102264200	Weak transcription	Ovary	ovary
23	chr4:102257000-102266400	Weak transcription	Left Ventricle	heart
24	chr4:102257000-102266400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:102257000-102266400	Weak transcription	Right Ventricle	heart
26	chr4:102257000-102266400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:102257600-102266600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:102257800-102259200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:102257800-102260000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:102258000-102259200	Genic enhancers	Primary B cells from cord blood	blood
31	chr4:102258000-102259800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr4:102258000-102260000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr4:102258000-102260400	Enhancers	Primary B cells from peripheral blood	blood
34	chr4:102258000-102260400	Enhancers	Colon Smooth Muscle	Colon
35	chr4:102258000-102260600	Enhancers	Brain Angular Gyrus	brain
36	chr4:102258000-102260800	Enhancers	Primary T cells from cord blood	blood
37	chr4:102258000-102266200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:102258200-102259400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr4:102258200-102263200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr4:102258200-102266400	Weak transcription	Spleen	Spleen
41	chr4:102258400-102259000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr4:102258400-102259600	Enhancers	Osteobl	bone
43	chr4:102258400-102259800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:102258400-102259800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:102258400-102260800	Enhancers	NHEK	skin
46	chr4:102258400-102262600	Weak transcription	GM12878-XiMat	blood
47	chr4:102258400-102266000	Weak transcription	HepG2	liver
48	chr4:102258600-102259000	Enhancers	Primary T cells fromperipheralblood	blood
49	chr4:102258600-102259000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:102258600-102259000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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