Variant report

Variant	rs35417638
Chromosome Location	chr8:99036670-99036671
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99035833..99038381-chr8:99052639..99054703,2	K562	blood:
2	chr8:98878080..98879600-chr8:99034809..99037094,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245970	Chromatin interaction
ENSG00000207067	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10098159	1.00[ASN][1000 genomes]
rs10955141	1.00[ASN][1000 genomes]
rs10955142	1.00[ASN][1000 genomes]
rs10955145	0.92[ASN][1000 genomes]
rs10955146	1.00[ASN][1000 genomes]
rs10955147	0.86[ASN][1000 genomes]
rs11559201	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11559202	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776602	1.00[ASN][1000 genomes]
rs11777189	1.00[ASN][1000 genomes]
rs11784449	1.00[ASN][1000 genomes]
rs11785807	1.00[ASN][1000 genomes]
rs11990341	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11991161	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996042	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997426	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544193	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549802	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549967	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550104	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248865	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254615	1.00[ASN][1000 genomes]
rs13254737	1.00[ASN][1000 genomes]
rs13255477	1.00[ASN][1000 genomes]
rs13265127	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268951	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274382	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279197	1.00[ASN][1000 genomes]
rs13439743	1.00[ASN][1000 genomes]
rs16896517	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279120	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290467	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290468	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290469	1.00[ASN][1000 genomes]
rs3088121	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34139241	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34276726	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34899856	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758031	0.97[ASN][1000 genomes]
rs55779959	1.00[ASN][1000 genomes]
rs56137923	1.00[ASN][1000 genomes]
rs57866232	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60324498	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68116021	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68131553	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985709	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986891	1.00[ASN][1000 genomes]
rs6987112	1.00[ASN][1000 genomes]
rs7004993	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012838	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016999	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71514975	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678742	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
2	chr8:99021200-99053600	Weak transcription	A549	lung
3	chr8:99021400-99043800	Weak transcription	Brain Germinal Matrix	brain
4	chr8:99022400-99055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:99023800-99041200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:99024000-99044000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:99024000-99054800	Weak transcription	Right Ventricle	heart
8	chr8:99024200-99042800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:99024200-99055000	Weak transcription	Fetal Brain Male	brain
10	chr8:99024200-99056000	Weak transcription	Spleen	Spleen
11	chr8:99025000-99052800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:99025200-99045400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:99025400-99045200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:99027600-99037400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:99027600-99045400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:99028800-99045400	Weak transcription	Fetal Brain Female	brain
17	chr8:99029000-99053600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:99030000-99045000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:99030000-99045200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr8:99030400-99036800	Weak transcription	Osteobl	bone
21	chr8:99030400-99037400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:99030400-99043200	Weak transcription	Esophagus	oesophagus
23	chr8:99030600-99042600	Weak transcription	Placenta	Placenta
24	chr8:99030600-99053400	Weak transcription	Pancreas	Pancrea
25	chr8:99030600-99056800	Weak transcription	Aorta	Aorta
26	chr8:99030800-99036800	Weak transcription	Primary B cells from cord blood	blood
27	chr8:99030800-99046400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:99031000-99055400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:99032000-99044200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:99032200-99036800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:99032200-99045800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:99032400-99043200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:99032400-99043200	Weak transcription	Dnd41	blood
34	chr8:99032400-99046800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:99033000-99044000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr8:99033600-99036800	Weak transcription	Liver	Liver
37	chr8:99033600-99039800	Weak transcription	NHLF	lung
38	chr8:99033600-99044000	Weak transcription	Fetal Thymus	thymus
39	chr8:99033600-99045400	Weak transcription	HSMM	muscle
40	chr8:99033800-99036800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:99033800-99036800	Weak transcription	Adipose Nuclei	Adipose
42	chr8:99033800-99036800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:99033800-99037200	Weak transcription	Ovary	ovary
44	chr8:99033800-99037200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:99033800-99037400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:99033800-99039200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:99033800-99041200	Weak transcription	Psoas Muscle	Psoas
48	chr8:99033800-99043400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:99033800-99043400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:99033800-99043400	Weak transcription	Rectal Mucosa Donor 29	rectum

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