Variant report

Variant	rs795816
Chromosome Location	chr6:4958175-4958176
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4950081..4953438-chr6:4957036..4959775,3	MCF-7	breast:
2	chr6:4957030..4958687-chr6:4966178..4969021,2	K562	blood:
3	chr6:4312864..4313766-chr6:4957300..4958354,5	MCF-7	breast:
4	chr6:4957603..4958360-chr6:5398859..5399468,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11967778	1.00[JPT][hapmap]
rs11967814	1.00[JPT][hapmap]
rs17139235	1.00[JPT][hapmap]
rs2764150	1.00[JPT][hapmap]
rs2764156	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2764160	1.00[ASN][1000 genomes]
rs2764189	1.00[JPT][hapmap]
rs2793239	1.00[JPT][hapmap]
rs2793257	1.00[JPT][hapmap]
rs2985678	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6597100	1.00[ASN][1000 genomes]
rs6597101	1.00[ASN][1000 genomes]
rs6597102	1.00[ASN][1000 genomes]
rs811259	1.00[JPT][hapmap]
rs877229	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1033905	chr6:4955826-5080904	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs795816	C6orf195	cis	cerebellum	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4943600-4959600	Weak transcription	NHDF-Ad	bronchial
2	chr6:4943600-4970000	Weak transcription	Psoas Muscle	Psoas
3	chr6:4946200-4970800	Weak transcription	Fetal Brain Female	brain
4	chr6:4947600-4970600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:4949200-4965200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:4949600-4960800	Weak transcription	Brain Germinal Matrix	brain
7	chr6:4949800-4960000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:4953000-4958600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:4954200-4958400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:4954400-4958200	Weak transcription	Thymus	Thymus
11	chr6:4954400-4958200	Weak transcription	Spleen	Spleen
12	chr6:4954400-4958400	Weak transcription	Fetal Brain Male	brain
13	chr6:4954400-4959600	Weak transcription	Fetal Intestine Large	intestine
14	chr6:4954400-4961600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:4954400-4967200	Weak transcription	Gastric	stomach
16	chr6:4954600-4958400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:4954600-4961000	Weak transcription	HepG2	liver
18	chr6:4954600-4961800	Weak transcription	NHLF	lung
19	chr6:4954600-4964600	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:4954800-4958200	Weak transcription	HMEC	breast
21	chr6:4954800-4958400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:4954800-4959000	Weak transcription	HSMM	muscle
23	chr6:4954800-4965200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:4954800-4973800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:4955000-4958200	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:4955000-4965800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr6:4955600-4958800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:4956400-4958800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:4956400-4959200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:4956400-4959400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:4956400-4964600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:4956400-4964800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:4956600-4958200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:4956600-4958200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:4956600-4958200	Weak transcription	Left Ventricle	heart
36	chr6:4956600-4958800	Weak transcription	Primary B cells from cord blood	blood
37	chr6:4956600-4959400	Weak transcription	Primary T cells from cord blood	blood
38	chr6:4956600-4965000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:4956600-4965400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:4956600-4965400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:4956800-4958400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:4956800-4958400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr6:4956800-4958400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:4956800-4958400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr6:4956800-4958400	Weak transcription	NH-A	brain
46	chr6:4956800-4958800	Weak transcription	GM12878-XiMat	blood
47	chr6:4956800-4959400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:4956800-4960000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr6:4956800-4960400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:4956800-4965200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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