Variant report

Variant	rs1378999
Chromosome Location	chr8:68178996-68178997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10091514	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10100536	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16933259	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933277	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17842082	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1808140	1.00[ASW][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.97[MKK][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290586	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28502563	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4364616	1.00[ASW][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58904549	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61403252	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6984597	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6986871	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988019	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6988547	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998170	1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MKK][hapmap];0.87[EUR][1000 genomes]
rs7000650	0.87[EUR][1000 genomes]
rs7003018	1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MKK][hapmap];0.87[EUR][1000 genomes]
rs7004391	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008877	1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018327	0.87[EUR][1000 genomes]
rs7812859	1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828748	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7833956	1.00[GIH][hapmap];0.91[MKK][hapmap];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68104600-68193000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:68104600-68215600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr8:68104800-68182400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:68105000-68184400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr8:68135200-68184400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:68153600-68181000	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr8:68155000-68179200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:68155600-68193800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:68155800-68226000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:68157600-68181400	Strong transcription	Primary B cells from cord blood	blood
11	chr8:68157800-68181000	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:68158000-68181400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr8:68159000-68180600	Strong transcription	Liver	Liver
14	chr8:68159000-68221400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:68159400-68181000	Strong transcription	Primary T cells from cord blood	blood
16	chr8:68159600-68180800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:68159600-68180800	Strong transcription	Dnd41	blood
18	chr8:68159600-68181000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr8:68159800-68179800	Strong transcription	Adipose Nuclei	Adipose
20	chr8:68159800-68180000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:68160400-68181000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:68160800-68181000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr8:68161000-68181200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:68161400-68181200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:68161600-68181000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:68162000-68181400	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr8:68162400-68192800	Weak transcription	Gastric	stomach
28	chr8:68162400-68231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:68162600-68184200	Weak transcription	Spleen	Spleen
30	chr8:68163200-68198400	Weak transcription	HepG2	liver
31	chr8:68165000-68202400	Weak transcription	Colonic Mucosa	Colon
32	chr8:68166200-68179400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:68166400-68181200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:68166400-68213600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:68166600-68181400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:68166800-68181200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:68169000-68179800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:68169200-68179000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:68169200-68181200	Strong transcription	Fetal Thymus	thymus
40	chr8:68171200-68181000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr8:68171600-68181400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:68171800-68179200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:68172000-68179200	Strong transcription	HSMM	muscle
44	chr8:68172000-68179600	Strong transcription	Placenta	Placenta
45	chr8:68172000-68179800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:68172000-68180400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:68172000-68180600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr8:68172000-68210800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:68172400-68180200	Strong transcription	HUVEC	blood vessel
50	chr8:68172400-68180800	Strong transcription	NH-A	brain

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