Variant report

Variant	rs16904175
Chromosome Location	chr8:130933103-130933104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130931267..130935486-chr8:130937892..130940092,5	K562	blood:
2	chr8:130930636..130935048-chr8:130935084..130940151,7	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16904158	1.00[AFR][1000 genomes]
rs16904171	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs868334	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130900600-130935000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:130901000-130935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:130904000-130950600	Weak transcription	HSMM	muscle
4	chr8:130905200-130950000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:130912400-130944600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:130913400-130946000	Weak transcription	Fetal Thymus	thymus
7	chr8:130917000-130944600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:130917600-130951200	Weak transcription	Pancreas	Pancrea
9	chr8:130918000-130949400	Weak transcription	GM12878-XiMat	blood
10	chr8:130922400-130933400	Weak transcription	Primary B cells from cord blood	blood
11	chr8:130922400-130936400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:130922400-130950600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:130923000-130951000	Weak transcription	Right Atrium	heart
14	chr8:130923200-130937000	Weak transcription	Left Ventricle	heart
15	chr8:130923200-130941200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:130924000-130933600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:130924800-130946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:130925600-130936200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:130925800-130934400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr8:130926000-130936800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:130926000-130944200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:130926800-130936600	Weak transcription	NHEK	skin
23	chr8:130926800-130944400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:130927000-130934200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:130928000-130933200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:130929200-130950600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:130929400-130936400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:130929400-130938400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:130929400-130944200	Weak transcription	Brain Anterior Caudate	brain
30	chr8:130929400-130949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:130929400-130950200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:130929600-130934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:130929600-130938200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:130929800-130934200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:130929800-130938200	Weak transcription	Brain Substantia Nigra	brain
36	chr8:130930400-130935200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:130930600-130943400	Weak transcription	Hela-S3	cervix
38	chr8:130930600-130944400	Weak transcription	Primary T cells from cord blood	blood
39	chr8:130930600-130950200	Weak transcription	Psoas Muscle	Psoas
40	chr8:130930800-130934000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr8:130931000-130940400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:130931000-130944600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr8:130931000-130945200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr8:130931200-130939000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:130931600-130933400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:130931600-130933600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:130931600-130937200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:130931800-130933600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr8:130931800-130933600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr8:130931800-130937000	Weak transcription	K562	blood

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