Variant report

Variant	rs6695308
Chromosome Location	chr1:185135441-185135442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185118825..185122081-chr1:185134391..185138048,3	K562	blood:
2	chr1:185134171..185136406-chr1:185138241..185141622,3	MCF-7	breast:
3	chr1:185133181..185136561-chr1:185138198..185141782,4	K562	blood:

Variant related genes	Relation type
ENSG00000231084	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11802738	0.84[ASW][hapmap]
rs16823875	0.84[ASW][hapmap]
rs16823884	0.84[ASW][hapmap]
rs3766713	0.84[ASW][hapmap]
rs3766716	0.84[ASW][hapmap]
rs3895195	0.84[ASW][hapmap]
rs6674689	1.00[ASW][hapmap];0.81[MKK][hapmap];0.85[YRI][hapmap]
rs6687946	0.84[ASW][hapmap]
rs6698620	0.84[ASW][hapmap];0.85[YRI][hapmap]
rs7540216	0.84[ASW][hapmap];0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127200-185147000	Weak transcription	Spleen	Spleen
2	chr1:185127200-185169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:185127400-185135600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr1:185127400-185136400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:185127400-185144400	Weak transcription	Pancreas	Pancrea
6	chr1:185127400-185152200	Weak transcription	Aorta	Aorta
7	chr1:185127400-185153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:185127400-185157400	Weak transcription	Small Intestine	intestine
9	chr1:185127400-185163400	Weak transcription	Esophagus	oesophagus
10	chr1:185127400-185192000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:185127600-185135800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:185127600-185136400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:185127600-185138400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:185127600-185138800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:185127600-185139200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:185127600-185139400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:185127600-185139400	Weak transcription	Fetal Kidney	kidney
18	chr1:185127600-185144400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:185127600-185144800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:185127600-185145200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:185127600-185145400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:185127600-185147400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:185127600-185170000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:185127600-185184600	Weak transcription	Psoas Muscle	Psoas
25	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
26	chr1:185127800-185136400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:185127800-185147000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:185128000-185135600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:185128000-185136200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:185128000-185136600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:185128000-185137000	Weak transcription	NH-A	brain
32	chr1:185128000-185166400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:185128200-185135800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr1:185128200-185139400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:185128200-185139400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:185128200-185139400	Weak transcription	Dnd41	blood
37	chr1:185128200-185147200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:185128200-185153800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:185128200-185161200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:185128400-185136200	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:185128400-185136200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:185128400-185136400	Weak transcription	Brain Anterior Caudate	brain
43	chr1:185128400-185136400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:185128400-185137000	Weak transcription	Stomach Mucosa	stomach
45	chr1:185128400-185139400	Weak transcription	Hela-S3	cervix
46	chr1:185128400-185139600	Weak transcription	NHLF	lung
47	chr1:185128400-185145400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:185128400-185155200	Weak transcription	NHDF-Ad	bronchial
49	chr1:185128400-185193800	Weak transcription	Brain Angular Gyrus	brain
50	chr1:185128400-185201800	Weak transcription	Gastric	stomach

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