Variant report

Variant	rs6597102
Chromosome Location	chr6:4956288-4956289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4944508..4946496-chr6:4954900..4957778,2	K562	blood:

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	0.96[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	1.00[ASN][1000 genomes]
rs6597100	1.00[ASN][1000 genomes]
rs6597101	1.00[ASN][1000 genomes]
rs795816	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
rs6597102	C6orf195	cis	cerebellum	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4938000-4956400	Strong transcription	Primary B cells from peripheral blood	blood
2	chr6:4942200-4957200	Strong transcription	Fetal Intestine Small	intestine
3	chr6:4942400-4956800	Weak transcription	Small Intestine	intestine
4	chr6:4942800-4956600	Strong transcription	Primary T cells from cord blood	blood
5	chr6:4943200-4956800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr6:4943400-4957800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:4943600-4959600	Weak transcription	NHDF-Ad	bronchial
8	chr6:4943600-4970000	Weak transcription	Psoas Muscle	Psoas
9	chr6:4943800-4956600	Strong transcription	Fetal Muscle Trunk	muscle
10	chr6:4943800-4956800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:4943800-4956800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr6:4944000-4957200	Strong transcription	Fetal Muscle Leg	muscle
13	chr6:4944000-4957400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:4944400-4956400	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:4944400-4956600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:4944400-4956600	Strong transcription	Placenta	Placenta
17	chr6:4944400-4956800	Strong transcription	Adipose Nuclei	Adipose
18	chr6:4944600-4956800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:4944600-4956800	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr6:4944600-4956800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:4946200-4957200	Weak transcription	Fetal Lung	lung
22	chr6:4946200-4970800	Weak transcription	Fetal Brain Female	brain
23	chr6:4946600-4956800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:4947600-4970600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:4948800-4956600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr6:4949200-4956400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:4949200-4965200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:4949400-4957000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr6:4949600-4957000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:4949600-4960800	Weak transcription	Brain Germinal Matrix	brain
31	chr6:4949800-4960000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:4950000-4956600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:4950200-4956800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr6:4950400-4957000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:4951600-4956600	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr6:4951600-4957000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:4951600-4957000	Weak transcription	Stomach Mucosa	stomach
38	chr6:4952000-4956800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:4952200-4956400	Strong transcription	Ovary	ovary
40	chr6:4952200-4956800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr6:4952400-4956400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:4952400-4956600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:4952400-4956600	Strong transcription	Left Ventricle	heart
44	chr6:4952400-4956800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:4952400-4956800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:4952400-4957000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:4953000-4958600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:4953800-4956600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:4953800-4956800	Strong transcription	NH-A	brain
50	chr6:4954200-4958400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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