Variant report

Variant	rs35150903
Chromosome Location	chr8:6342671-6342672
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	chr8:6340740..6343384-chr8:6345418..6348031,2	K562	blood:
2	chr8:6340740..6344062-chr8:6345418..6348031,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11137029	0.87[ASN][1000 genomes]
rs12545613	0.84[ASN][1000 genomes]
rs12550299	0.84[ASN][1000 genomes]
rs12674488	0.94[ASN][1000 genomes]
rs12675930	0.87[ASN][1000 genomes]
rs12676907	0.87[ASN][1000 genomes]
rs12676922	0.87[ASN][1000 genomes]
rs12677501	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12679619	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680048	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12681009	0.96[ASN][1000 genomes]
rs12681195	0.85[ASN][1000 genomes]
rs13248420	0.96[ASN][1000 genomes]
rs13267816	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13281793	0.96[ASN][1000 genomes]
rs13281967	0.93[ASN][1000 genomes]
rs13282022	0.93[ASN][1000 genomes]
rs13282116	0.96[ASN][1000 genomes]
rs13282577	0.93[ASN][1000 genomes]
rs1550690	0.92[ASN][1000 genomes]
rs17077031	0.84[ASN][1000 genomes]
rs17077056	0.89[ASN][1000 genomes]
rs17077067	0.93[ASN][1000 genomes]
rs17077083	0.94[ASN][1000 genomes]
rs17077094	0.96[ASN][1000 genomes]
rs17077109	0.82[ASN][1000 genomes]
rs17613024	0.99[ASN][1000 genomes]
rs2277136	0.94[ASN][1000 genomes]
rs2440395	0.87[ASN][1000 genomes]
rs2440406	0.93[ASN][1000 genomes]
rs2440432	0.93[ASN][1000 genomes]
rs2442485	0.93[ASN][1000 genomes]
rs2442497	0.84[ASN][1000 genomes]
rs2515592	0.91[ASN][1000 genomes]
rs2916723	0.90[ASN][1000 genomes]
rs2920674	0.83[ASN][1000 genomes]
rs2920681	0.93[ASN][1000 genomes]
rs34009442	0.82[ASN][1000 genomes]
rs34635086	0.82[ASN][1000 genomes]
rs34748476	1.00[ASN][1000 genomes]
rs56073811	0.86[ASN][1000 genomes]
rs59635757	0.95[ASN][1000 genomes]
rs60915478	0.89[ASN][1000 genomes]
rs73196802	0.93[ASN][1000 genomes]
rs73661775	0.94[ASN][1000 genomes]
rs7833479	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7833481	0.84[ASN][1000 genomes]
rs7833484	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv482828	chr8:6182711-6355710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv890055	chr8:6237397-6351252	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv890056	chr8:6314486-6343727	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv890057	chr8:6317165-6427868	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1025860	chr8:6328628-6360743	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv890058	chr8:6329510-6367302	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35150903	MCPH1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6287600-6344400	Weak transcription	Small Intestine	intestine
2	chr8:6304400-6360200	Weak transcription	Esophagus	oesophagus
3	chr8:6308000-6372600	Weak transcription	HMEC	breast
4	chr8:6316400-6345600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:6317800-6380200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:6321800-6343800	Weak transcription	Hela-S3	cervix
7	chr8:6322000-6346800	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:6325800-6374400	Weak transcription	K562	blood
9	chr8:6331400-6345600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:6335000-6344200	Weak transcription	NHLF	lung
11	chr8:6335000-6345200	Weak transcription	Ovary	ovary
12	chr8:6335600-6344400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:6336800-6377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:6337800-6347600	Strong transcription	Primary T cells from cord blood	blood
15	chr8:6338000-6343600	Strong transcription	GM12878-XiMat	blood
16	chr8:6338200-6343400	Strong transcription	Fetal Intestine Large	intestine
17	chr8:6338200-6343400	Strong transcription	Thymus	Thymus
18	chr8:6338800-6347600	Strong transcription	Fetal Thymus	thymus
19	chr8:6338800-6360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:6338800-6360600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:6338800-6369600	Weak transcription	Spleen	Spleen
22	chr8:6338800-6389600	Weak transcription	HSMMtube	muscle
23	chr8:6339400-6343400	Weak transcription	NHDF-Ad	bronchial
24	chr8:6339600-6342800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:6339800-6360400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:6340000-6360400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:6340400-6343600	Weak transcription	Colonic Mucosa	Colon
28	chr8:6340400-6344600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:6340400-6347600	Weak transcription	HepG2	liver
30	chr8:6340400-6371600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:6340600-6343000	Weak transcription	HUVEC	blood vessel
32	chr8:6340600-6343400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:6340600-6343600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:6340600-6345000	Weak transcription	Liver	Liver
35	chr8:6340800-6342800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:6340800-6355400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr8:6340800-6360200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:6340800-6360400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:6340800-6371800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:6341000-6343000	Weak transcription	NH-A	brain
41	chr8:6341000-6343800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:6341000-6344800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:6341000-6345200	Weak transcription	Placenta	Placenta
44	chr8:6341000-6347600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:6341000-6360200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr8:6341000-6360600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:6341000-6372000	Weak transcription	A549	lung
48	chr8:6341000-6375000	Weak transcription	Brain Angular Gyrus	brain
49	chr8:6341200-6343200	Weak transcription	Osteobl	bone
50	chr8:6341200-6345600	Weak transcription	Fetal Muscle Trunk	muscle

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