Variant report

Variant	rs6469250
Chromosome Location	chr8:110244290-110244291
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110234924..110237282-chr8:110242100..110245071,2	K562	blood:
2	chr8:110242575..110246884-chr8:110247305..110250446,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11997273	1.00[GIH][hapmap];0.82[LWK][hapmap];0.82[YRI][hapmap]
rs16879252	0.80[AFR][1000 genomes]
rs16879260	0.80[AFR][1000 genomes]
rs16879306	0.81[ASW][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap]

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	nsv1023204	chr8:110169573-110303085	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1031663	chr8:110177432-110303085	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891272	chr8:110217266-110268104	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv891274	chr8:110224047-110308776	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv891275	chr8:110224047-110319234	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv891276	chr8:110232329-110308776	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6469250	CML66	cis	multi-tissue	Pritchard
rs6469250	NUDCD1	cis	lymphoblastoid	seeQTL
rs6469250	NUDCD1	cis	multi-tissue	Pritchard

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110211200-110311600	Weak transcription	Right Ventricle	heart
2	chr8:110234800-110264200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr8:110235000-110251000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:110235400-110271400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:110235400-110275000	Weak transcription	Fetal Brain Male	brain
6	chr8:110235800-110251200	Weak transcription	Fetal Intestine Large	intestine
7	chr8:110235800-110252600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:110236000-110264200	Weak transcription	Spleen	Spleen
9	chr8:110236000-110265400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:110236200-110264200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:110236200-110308800	Weak transcription	Thymus	Thymus
12	chr8:110236200-110309200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:110236400-110257400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:110236600-110245400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:110236600-110251200	Weak transcription	GM12878-XiMat	blood
16	chr8:110236600-110264200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:110236600-110344200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:110237000-110283800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:110237200-110271400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:110237600-110250800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:110237600-110259200	Weak transcription	Brain Anterior Caudate	brain
22	chr8:110237800-110254200	Weak transcription	Fetal Thymus	thymus
23	chr8:110237800-110254200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:110237800-110254800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr8:110237800-110264200	Weak transcription	Fetal Lung	lung
26	chr8:110237800-110271400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:110238000-110311600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:110238200-110246600	Weak transcription	Fetal Brain Female	brain
29	chr8:110238200-110250800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:110238200-110251200	Weak transcription	Primary B cells from cord blood	blood
31	chr8:110238200-110251200	Weak transcription	Left Ventricle	heart
32	chr8:110238200-110251400	Weak transcription	Adipose Nuclei	Adipose
33	chr8:110238200-110254200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:110238200-110264200	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:110238200-110286600	Weak transcription	Ovary	ovary
36	chr8:110239200-110245400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:110239200-110251400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr8:110239200-110257600	Weak transcription	Lung	lung
39	chr8:110239600-110250800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:110239600-110255200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:110239600-110274400	Weak transcription	Pancreas	Pancrea
42	chr8:110239800-110254200	Weak transcription	Liver	Liver
43	chr8:110240400-110274800	Weak transcription	Small Intestine	intestine
44	chr8:110240600-110244800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:110241400-110253800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:110241800-110256200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:110241800-110295600	Weak transcription	Psoas Muscle	Psoas
48	chr8:110242000-110252800	Weak transcription	HSMM	muscle
49	chr8:110242000-110274400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:110242000-110274600	Weak transcription	HSMMtube	muscle

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