Variant report

Variant	rs2035514
Chromosome Location	chr8:107748962-107748963
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr8:107748482-107749138	GM12878	blood:	n/a	n/a
2	RUNX3	chr8:107748467-107749064	GM12878	blood:	n/a	n/a
3	FOSL1	chr8:107748459-107748986	HCT-116	colon:	n/a	chr8:107748933-107748945
4	CREB1	chr8:107748622-107749013	GM12878	blood:	n/a	n/a
5	CREB1	chr8:107748490-107749134	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:107748944-107749013	MCF10A-Er-Src	breast:	n/a	n/a
7	CREB1	chr8:107748478-107749002	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:107748936..107750658-chr8:107752847..107755089,2	MCF-7	breast:
2	chr8:107744131..107745711-chr8:107748039..107749795,2	K562	blood:
3	chr8:107747378..107749355-chr8:107751710..107754265,2	MCF-7	breast:
4	chr8:107669058..107671835-chr8:107748607..107750737,2	MCF-7	breast:

Variant related genes	Relation type
OXR1	TF binding region
ENSG00000164830	Chromatin interaction
ENSG00000253582	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10091390	1.00[YRI][hapmap]
rs10104941	1.00[YRI][hapmap]
rs10108240	1.00[YRI][hapmap]
rs10110610	1.00[YRI][hapmap]
rs1080966	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543558	1.00[YRI][hapmap]
rs13257240	0.83[AMR][1000 genomes]
rs13272833	1.00[CHB][hapmap]
rs16875042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875077	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17258979	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17342815	1.00[CHB][hapmap]
rs28921377	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28921399	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28921400	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28921407	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28924682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28924693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28924699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3739323	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56171452	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57273012	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57378512	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57400955	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73699979	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73699980	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73699981	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73699996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73699998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7461484	1.00[YRI][hapmap]
rs7831263	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7843781	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][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	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107710400-107755400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:107719600-107762400	Weak transcription	Lung	lung
3	chr8:107719600-107765600	Weak transcription	Colonic Mucosa	Colon
4	chr8:107719600-107775200	Weak transcription	Gastric	stomach
5	chr8:107719600-107777800	Weak transcription	Esophagus	oesophagus
6	chr8:107719800-107753800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:107724800-107751400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr8:107733000-107751200	Weak transcription	HepG2	liver
9	chr8:107734200-107750600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:107736200-107751600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:107737200-107750000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr8:107738000-107755400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:107738600-107751600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:107738600-107755400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:107738600-107755400	Weak transcription	Fetal Intestine Small	intestine
16	chr8:107738800-107751400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:107738800-107757000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:107739000-107752600	Weak transcription	Fetal Intestine Large	intestine
19	chr8:107739000-107753000	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:107739000-107754200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:107739000-107758000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:107739000-107775200	Weak transcription	A549	lung
23	chr8:107739200-107751600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:107739200-107752000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:107739200-107752600	Weak transcription	Fetal Kidney	kidney
26	chr8:107739200-107752600	Weak transcription	Fetal Thymus	thymus
27	chr8:107739200-107753200	Weak transcription	NHLF	lung
28	chr8:107739200-107760800	Weak transcription	Fetal Stomach	stomach
29	chr8:107739600-107751600	Weak transcription	Liver	Liver
30	chr8:107740000-107751600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:107740000-107751600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:107740000-107751600	Weak transcription	Left Ventricle	heart
33	chr8:107740000-107756200	Weak transcription	Psoas Muscle	Psoas
34	chr8:107740000-107759600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:107740000-107775200	Weak transcription	Ovary	ovary
36	chr8:107740200-107749800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:107740200-107752400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:107740200-107754400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:107740200-107755400	Weak transcription	Thymus	Thymus
40	chr8:107740200-107767400	Weak transcription	K562	blood
41	chr8:107740200-107783800	Weak transcription	Fetal Brain Male	brain
42	chr8:107740400-107751400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr8:107740400-107751800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:107740400-107752600	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:107740400-107755200	Weak transcription	Brain Angular Gyrus	brain
46	chr8:107740800-107751600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr8:107740800-107751600	Weak transcription	Fetal Lung	lung
48	chr8:107740800-107775200	Weak transcription	Brain Substantia Nigra	brain
49	chr8:107741000-107768200	Weak transcription	Brain Germinal Matrix	brain
50	chr8:107741600-107751600	Weak transcription	Dnd41	blood

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