Variant report

Variant	rs1900102
Chromosome Location	chr8:8923585-8923586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8895456..8895966-chr8:8922957..8923902,2	MCF-7	breast:
2	chr8:8922931..8923921-chr8:9007807..9008747,13	K562	blood:
3	chr8:8923128..8923969-chr8:8977242..8977816,2	MCF-7	breast:
4	chr8:8922824..8923700-chr8:9130087..9130667,2	MCF-7	breast:
5	chr8:8922951..8924047-chr8:9007863..9008877,16	MCF-7	breast:
6	chr8:8922930..8923887-chr8:9195546..9196445,3	K562	blood:
7	chr8:8923309..8925417-chr8:8931144..8934790,3	K562	blood:
8	chr8:8922328..8927101-chr8:9005412..9009075,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173281	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2028806	0.81[JPT][hapmap]
rs2921370	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2921372	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2921373	0.94[ASN][1000 genomes]
rs2921374	0.89[ASN][1000 genomes]
rs2921376	0.88[ASN][1000 genomes]
rs2953803	0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2953805	0.82[ASN][1000 genomes]
rs2979249	0.81[ASN][1000 genomes]
rs2979250	0.84[ASN][1000 genomes]
rs2979252	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7839585	0.89[MEX][hapmap]
rs895254	1.00[CEU][hapmap];0.94[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];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1900102	CTSB	cis	cerebellum	SCAN
rs1900102	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs1900102	MFHAS1	cis	cerebellum	SCAN
rs1900102	SGK223	cis	cerebellum	SCAN
rs1900102	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs1900102	ERI1	cis	parietal	SCAN
rs1900102	DEFB136	cis	parietal	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8915000-8923600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:8915400-8928000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:8916000-8935200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:8918800-8923600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:8921600-8924000	Enhancers	K562	blood
6	chr8:8921800-8923600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:8922400-8923600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:8922400-8923600	Weak transcription	Fetal Intestine Large	intestine
9	chr8:8922800-8924600	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:8923000-8923800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:8923000-8924200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:8923200-8923600	Enhancers	Primary hematopoietic stem cells	blood
13	chr8:8923400-8923600	Enhancers	Primary B cells from cord blood	blood
14	chr8:8923400-8923600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:8923400-8923600	Enhancers	Fetal Heart	heart
16	chr8:8923400-8923600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr8:8923400-8923600	Enhancers	Rectal Smooth Muscle	rectum
18	chr8:8923400-8923600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:8923400-8923600	Enhancers	Dnd41	blood
20	chr8:8923400-8923600	Enhancers	GM12878-XiMat	blood
21	chr8:8923400-8923800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:8923400-8923800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr8:8923400-8923800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr8:8923400-8923800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:8923400-8923800	Enhancers	Adipose Nuclei	Adipose
26	chr8:8923400-8923800	Enhancers	Aorta	Aorta
27	chr8:8923400-8923800	Enhancers	Colonic Mucosa	Colon
28	chr8:8923400-8923800	Enhancers	Ovary	ovary
29	chr8:8923400-8923800	Enhancers	Osteobl	bone
30	chr8:8923400-8924000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr8:8923400-8924000	Enhancers	Primary T cells from cord blood	blood
32	chr8:8923400-8924000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr8:8923400-8924000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr8:8923400-8924000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr8:8923400-8924000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr8:8923400-8924000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:8923400-8924000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr8:8923400-8924000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:8923400-8924000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr8:8923400-8924000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:8923400-8924000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:8923400-8924000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr8:8923400-8924000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr8:8923400-8924000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr8:8923400-8924000	Enhancers	Right Atrium	heart
46	chr8:8923400-8924000	Enhancers	Hela-S3	cervix
47	chr8:8923400-8924000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr8:8923400-8924200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:8923400-8924200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:8923400-8924200	Enhancers	Fetal Intestine Small	intestine

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