Variant report

Variant	rs2067866
Chromosome Location	chr8:118831654-118831655
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	chr8:118828866..118831812-chr8:118836316..118838725,2	K562	blood:
2	8:118831545-118831953..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10090920	0.89[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10091596	0.89[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10094440	0.89[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10094527	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10098149	0.89[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs10098896	0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10098992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102199	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10102974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103242	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10103734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10105753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs10107623	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109017	0.90[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109062	0.89[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10111197	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10111573	0.89[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10111748	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10111990	0.89[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10112120	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10113092	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12675718	0.92[JPT][hapmap]
rs17429964	0.85[JPT][hapmap]
rs17430042	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17430154	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17430175	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17430182	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17430252	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17430273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17430294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17430301	1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17439576	0.85[JPT][hapmap]
rs17439791	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17439798	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17439812	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17439840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17439847	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17439868	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17450494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17450612	0.89[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17450661	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17450667	0.89[CHB][hapmap];0.91[JPT][hapmap]
rs17450681	0.89[CHB][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs17452687	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17474672	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17474679	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17474839	0.89[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17479145	0.85[JPT][hapmap]
rs17479362	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17503377	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17503447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6987177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73706423	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73706427	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7835395	0.89[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9656922	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9792392	0.89[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118801000-118843600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:118804200-118836000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:118804200-118838000	Strong transcription	HSMM	muscle
4	chr8:118805400-118836800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:118805600-118849800	Strong transcription	Liver	Liver
6	chr8:118808600-118849400	Weak transcription	Stomach Mucosa	stomach
7	chr8:118810000-118843800	Weak transcription	Fetal Heart	heart
8	chr8:118814000-118842200	Weak transcription	Primary B cells from cord blood	blood
9	chr8:118815400-118834800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:118816800-118836800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:118817000-118833600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:118817200-118834600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:118817200-118852400	Weak transcription	Psoas Muscle	Psoas
14	chr8:118817200-118852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:118817400-118835800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:118819000-118831800	Weak transcription	Dnd41	blood
17	chr8:118819000-118842000	Weak transcription	Fetal Kidney	kidney
18	chr8:118819600-118832200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:118819600-118851000	Weak transcription	Fetal Thymus	thymus
20	chr8:118822800-118835000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr8:118822800-118835600	Strong transcription	Primary T cells from cord blood	blood
22	chr8:118823200-118834800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr8:118823800-118834000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:118824200-118835200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:118824600-118835400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:118825000-118844800	Weak transcription	Brain Germinal Matrix	brain
27	chr8:118825000-118850000	Weak transcription	Fetal Brain Female	brain
28	chr8:118825200-118832000	Weak transcription	Spleen	Spleen
29	chr8:118825200-118833800	Weak transcription	Fetal Brain Male	brain
30	chr8:118825200-118841000	Weak transcription	Thymus	Thymus
31	chr8:118825200-118848000	Weak transcription	Colonic Mucosa	Colon
32	chr8:118825200-118859600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:118825200-118859800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:118825400-118831800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:118825400-118831800	Weak transcription	Lung	lung
36	chr8:118825400-118834600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:118825400-118849200	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:118825400-118849600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:118825400-118852400	Weak transcription	Right Ventricle	heart
40	chr8:118825400-118853200	Weak transcription	Brain Anterior Caudate	brain
41	chr8:118825400-118859000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:118825600-118832000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:118825600-118834800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:118825600-118843800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr8:118825600-118849600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:118825600-118849800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:118825600-118857200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:118825600-118860000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr8:118825800-118831800	Weak transcription	Pancreas	Pancrea
50	chr8:118825800-118846400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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