Variant report

Variant	rs1436604
Chromosome Location	chr8:104510799-104510800
allele	A/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	SIN3A	chr8:104510669-104514416	H1-hESC	embryonic stem cell:	n/a	chr8:104512440-104512453 chr8:104512690-104512703 chr8:104512322-104512335 chr8:104514131-104514145 chr8:104511737-104511746 chr8:104511075-104511086 chr8:104514132-104514141
2	REST	chr8:104510798-104511090	SK-N-SH	brain:	n/a	chr8:104511063-104511076
3	KAP1	chr8:104510793-104511435	HEK293	kidney:	n/a	n/a
4	POLR2A	chr8:104510785-104510976	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr8:104510510-104512074	HCT-116	colon:	n/a	chr8:104511715-104511725 chr8:104511045-104511055
6	FOXP2	chr8:104510745-104511132	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr8:104510755-104510829	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr8:104510742-104511495	HCT-116	colon:	n/a	chr8:104511103-104511112 chr8:104511044-104511053 chr8:104511071-104511080
9	POLR2A	chr8:104510722-104511846	HCT-116	colon:	n/a	n/a
10	POLR2A	chr8:104510628-104512178	HCT-116	colon:	n/a	n/a
11	YY1	chr8:104510758-104511132	SK-N-SH_RA	brain:	n/a	chr8:104511103-104511112 chr8:104511044-104511053 chr8:104511071-104511080
12	FOXA1	chr8:104510788-104510986	T-47D	breast:	n/a	n/a
13	MYC	chr8:104510762-104511114	MCF-7	breast:	n/a	chr8:104511045-104511055
14	HA-E2F1	chr8:104510610-104511673	MCF-7	breast:	n/a	chr8:104511230-104511247 chr8:104511044-104511053 chr8:104511234-104511245 chr8:104511234-104511249 chr8:104511237-104511244
15	ZNF263	chr8:104510341-104512321	HEK293-T-REx	kidney:	n/a	chr8:104510771-104510780 chr8:104511611-104511620
16	TCF12	chr8:104510704-104512276	ECC-1	luminal epithelium:	n/a	chr8:104511704-104511711
17	MAX	chr8:104510619-104511995	MCF-7	breast:	n/a	chr8:104511715-104511725 chr8:104511045-104511055
18	MAX	chr8:104510638-104511931	ECC-1	luminal epithelium:	n/a	chr8:104511715-104511725 chr8:104511045-104511055
19	MAX	chr8:104510720-104511782	ECC-1	luminal epithelium:	n/a	chr8:104511715-104511725 chr8:104511045-104511055
20	POLR2A	chr8:104510780-104513316	H1-neurons	neurons:	n/a	n/a
21	MAX	chr8:104510723-104511669	SK-N-SH	brain:	n/a	chr8:104511045-104511055
22	MXI1	chr8:104510187-104514952	SK-N-SH	brain:	n/a	n/a
23	TCF7L2	chr8:104510767-104512119	HCT-116	colon:	n/a	n/a
24	HDAC2	chr8:104510605-104511110	MCF-7	breast:	n/a	chr8:104510653-104510667 chr8:104510657-104510671
25	ZNF143	chr8:104510697-104511787	H1-hESC	embryonic stem cell:	n/a	chr8:104510876-104510895
26	MAX	chr8:104510679-104511741	A549	lung:	n/a	chr8:104511715-104511725 chr8:104511045-104511055

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:104510754-104510804	PFSK-1	brain:	n/a
2	chr8:104510754-104510804	AG09319	gingival:	n/a
3	chr8:104510754-104510804	BE2_C	brain:	n/a
4	chr8:104510754-104510804	GM12878	blood:	n/a
5	chr8:104510754-104510804	BJ	skin:	n/a
6	chr8:104510754-104510804	HAEpiC	amniotic membrane:	n/a
7	chr8:104510754-104510804	T-47D	breast:	n/a
8	chr8:104510754-104510804	MCF10A-Er-Src	breast:	n/a
9	chr8:104510754-104510804	AG04449	skin:	fetal
10	chr8:104510754-104510804	Hela-S3	cervix:	n/a
11	chr8:104510754-104510804	HNPCEpiC	eye:	n/a
12	chr8:104510754-104510804	HCPEpiC	choroid plexus:	n/a
13	chr8:104510754-104510804	GM12891	blood:	n/a
14	chr8:104510754-104510804	HMEC	breast:	n/a
15	chr8:104510754-104510804	AG10803	skin:	n/a
16	chr8:104510754-104510804	GM06990	blood:	n/a
17	chr8:104510754-104510804	A549	lung:	n/a
18	chr8:104510754-104510804	AG04450	lung:	fetal
19	chr8:104510754-104510804	GM19239	blood:	n/a
20	chr8:104510754-104510804	PANC-1	pancreas:	n/a
21	chr8:104510754-104510804	SK-N-MC	brain:	n/a
22	chr8:104510754-104510804	Hepatocyte	liver:	n/a
23	chr8:104510754-104510804	SK-N-SH	brain:	n/a
24	chr8:104510754-104510804	AG09309	skin:	n/a
25	chr8:104510754-104510804	RPTEC	kidney:	n/a
26	chr8:104510754-104510804	NHDF-neo	bronchial:	n/a
27	chr8:104510754-104510804	HRPEpiC	eye:	n/a
28	chr8:104510754-104510804	PrEC	prostate:	n/a
29	chr8:104510754-104510804	SKMC	muscle:	n/a
30	chr8:104510754-104510804	Caco-2	colon:	n/a
31	chr8:104510754-104510804	Jurkat	blood:	n/a
32	chr8:104510754-104510804	LNCaP	prostate:	n/a
33	chr8:104510754-104510804	NT2-D1	testis:	n/a
34	chr8:104510754-104510804	ovcar-3	ovarian:	n/a
35	chr8:104510754-104510804	HepG2	liver:	n/a
36	chr8:104510754-104510804	HEK293	kidney:	embryo
37	chr8:104510754-104510804	GM12892	blood:	n/a
38	chr8:104510754-104510804	SK-N-SH_RA	brain:	n/a
39	chr8:104510754-104510804	K562	blood:	n/a
40	chr8:104510754-104510804	HRE	kidney:	n/a
41	chr8:104510754-104510804	HIPEpiC	eye:	n/a
42	chr8:104510754-104510804	HCT-116	colon:	n/a
43	chr8:104510754-104510804	HUVEC	blood vessel:	n/a
44	chr8:104510754-104510804	HCF	heart:	n/a
45	chr8:104510754-104510804	NB4	blood:	n/a
46	chr8:104510754-104510804	SAEC	small airway:	n/a
47	chr8:104510754-104510804	IMR90	lung:	fetal
48	chr8:104510754-104510804	HL-60	blood:	n/a
49	chr8:104510754-104510804	CMK	blood:	n/a
50	chr8:104510754-104510804	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104424987..104428689-chr8:104510615..104514344,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RIMS2-1	chr8:104510477-104510898	expReg_chr8_5569_+
2	lnc-SLC25A32-3	chr8:104510404-104512975	NONHSAT128193

Variant related genes	Relation type
RIMS2	TF binding region
RIMS2	CpG island
ENSG00000164933	Chromatin interaction
ENSG00000164934	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10106745	0.88[ASN][1000 genomes]
rs1304378	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1347603	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1365283	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1426293	0.91[ASN][1000 genomes]
rs1426295	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1436602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1593496	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1834571	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1946369	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1960662	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2080612	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2111495	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2246906	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2263210	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2430752	0.92[ASN][1000 genomes]
rs2433249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2433253	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2433254	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2433255	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2437768	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2437769	1.00[ASN][1000 genomes]
rs2449907	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2449908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2449913	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2449914	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2449917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2449919	0.84[ASN][1000 genomes]
rs2469971	0.82[AMR][1000 genomes]
rs2469974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469978	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469979	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469980	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3098208	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3098209	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3098261	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7815614	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7836038	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104509600-104510800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:104510200-104510800	Enhancers	HepG2	liver
3	chr8:104510400-104510800	Enhancers	HMEC	breast
4	chr8:104510400-104511400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr8:104510400-104514200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:104510400-104514400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:104510400-104514600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:104510400-104514800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr8:104510400-104515000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:104510600-104510800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:104510600-104510800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:104510600-104510800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr8:104510600-104510800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:104510600-104510800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:104510600-104510800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:104510600-104510800	Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr8:104510600-104510800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:104510600-104510800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:104510600-104510800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:104510600-104510800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:104510600-104510800	Active TSS	Brain Germinal Matrix	brain
22	chr8:104510600-104510800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:104510600-104510800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr8:104510600-104510800	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr8:104510600-104510800	Bivalent Enhancer	Fetal Kidney	kidney
26	chr8:104510600-104511000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr8:104510600-104511000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
28	chr8:104510600-104511000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
29	chr8:104510600-104511200	Bivalent Enhancer	Fetal Brain Male	brain
30	chr8:104510600-104511200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
31	chr8:104510600-104511200	Bivalent Enhancer	Stomach Mucosa	stomach
32	chr8:104510600-104511400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
33	chr8:104510600-104511400	Flanking Bivalent TSS/Enh	NH-A	brain
34	chr8:104510600-104511400	Bivalent/Poised TSS	NHDF-Ad	bronchial
35	chr8:104510600-104511600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:104510600-104511600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
37	chr8:104510600-104511800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:104510600-104511800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:104510600-104512600	Active TSS	Brain Cingulate Gyrus	brain
40	chr8:104510600-104513200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:104510600-104514200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:104510600-104514200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:104510600-104514200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:104510600-104514200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr8:104510600-104514400	Active TSS	H9 Cell Line	embryonic stem cell
46	chr8:104510600-104514400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:104510600-104514600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr8:104510600-104514600	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr8:104510600-104514800	Active TSS	iPS-15b Cell Line	embryonic stem cell

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