Variant report

Variant	rs2236679
Chromosome Location	chr11:66108894-66108895
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr11:66108680-66109648	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:66108704-66110024	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66108893-66108943	BJ	skin:	n/a
2	chr11:66108893-66108943	AoSMC	blood vessel:	n/a
3	chr11:66108893-66108943	NHBE	bronchial:	n/a
4	chr11:66108893-66108943	Caco-2	colon:	n/a
5	chr11:66108893-66108943	AG04450	lung:	fetal
6	chr11:66108893-66108943	SK-N-MC	brain:	n/a
7	chr11:66108893-66108943	NB4	blood:	n/a
8	chr11:66108893-66108943	HAEpiC	amniotic membrane:	n/a
9	chr11:66108893-66108943	Hepatocyte	liver:	n/a
10	chr11:66108893-66108943	Hela-S3	cervix:	n/a
11	chr11:66108893-66108943	HRPEpiC	eye:	n/a
12	chr11:66108893-66108943	MCF-7	breast:	n/a
13	chr11:66108893-66108943	HL-60	blood:	n/a
14	chr11:66108893-66108943	Jurkat	blood:	n/a
15	chr11:66108893-66108943	HCPEpiC	choroid plexus:	n/a
16	chr11:66108893-66108943	A549	lung:	n/a
17	chr11:66108893-66108943	HCF	heart:	n/a
18	chr11:66108893-66108943	HEEpiC	esophagus:	n/a
19	chr11:66108893-66108943	CMK	blood:	n/a
20	chr11:66108893-66108943	GM06990	blood:	n/a
21	chr11:66108893-66108943	K562	blood:	n/a
22	chr11:66108893-66108943	NH-A	brain:	n/a
23	chr11:66108893-66108943	HRCEpiC	kidney:	n/a
24	chr11:66108893-66108943	GM12891	blood:	n/a
25	chr11:66108893-66108943	PANC-1	pancreas:	n/a
26	chr11:66108893-66108943	PFSK-1	brain:	n/a
27	chr11:66108893-66108943	HUVEC	blood vessel:	n/a
28	chr11:66108893-66108943	HRE	kidney:	n/a
29	chr11:66108893-66108943	H1-hESC	embryonic stem cell:	embryo
30	chr11:66108893-66108943	ovcar-3	ovarian:	n/a
31	chr11:66108893-66108943	ECC-1	luminal epithelium:	n/a
32	chr11:66108893-66108943	ProgFib	skin:	n/a
33	chr11:66108893-66108943	AG04449	skin:	fetal
34	chr11:66108893-66108943	U87	brain:	n/a
35	chr11:66108893-66108943	AG10803	skin:	n/a
36	chr11:66108893-66108943	NT2-D1	testis:	n/a
37	chr11:66108893-66108943	HepG2	liver:	n/a
38	chr11:66108893-66108943	SAEC	small airway:	n/a
39	chr11:66108893-66108943	SK-N-SH	brain:	n/a
40	chr11:66108893-66108943	HNPCEpiC	eye:	n/a
41	chr11:66108893-66108943	MCF10A-Er-Src	breast:	n/a
42	chr11:66108893-66108943	HCM	heart:	n/a
43	chr11:66108893-66108943	HIPEpiC	eye:	n/a
44	chr11:66108893-66108943	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:66108893-66108943	PrEC	prostate:	n/a
46	chr11:66108893-66108943	HMEC	breast:	n/a
47	chr11:66108893-66108943	SKMC	muscle:	n/a
48	chr11:66108893-66108943	AG09309	skin:	n/a
49	chr11:66108893-66108943	GM19239	blood:	n/a
50	chr11:66108893-66108943	GM12892	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66108839..66110813-chr11:66110934..66112585,3	K562	blood:
2	chr11:66108764..66111622-chr11:66204863..66206886,2	K562	blood:
3	chr11:66108426..66118730-chr11:66133678..66141000,25	MCF-7	breast:
4	chr11:66092468..66094191-chr11:66107437..66109172,2	K562	blood:
5	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:

No data

Variant related genes	Relation type
RIN1	TF binding region
RIN1	CpG island
ENSG00000174547	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000174744	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1039594	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1047029	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10750784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10791869	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10791872	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10791874	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10791876	0.85[EUR][1000 genomes]
rs10896111	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896112	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896115	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10896116	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11227465	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11601396	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11823140	0.96[CEU][hapmap];0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12416747	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12576299	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12577196	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12785321	0.82[EUR][1000 genomes]
rs12785651	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs12786563	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs12794121	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1546358	0.84[EUR][1000 genomes]
rs1784029	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1785633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1785639	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1892940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2279861	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2279862	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2282530	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs2282531	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3016767	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3177514	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34043951	0.83[EUR][1000 genomes]
rs4244813	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4466842	0.88[CEU][hapmap]
rs4930177	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4930178	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4930179	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4930181	0.84[EUR][1000 genomes]
rs4930362	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4930363	0.84[EUR][1000 genomes]
rs4930366	0.81[EUR][1000 genomes]
rs4930368	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs55998145	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56123976	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56321771	0.84[EUR][1000 genomes]
rs61891449	0.85[EUR][1000 genomes]
rs6591213	1.00[CEU][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6591215	0.84[EUR][1000 genomes]
rs6591217	0.85[EUR][1000 genomes]
rs7104253	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7104570	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7105015	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7105401	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7107191	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7110944	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7117630	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7126018	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73489638	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7938676	0.83[EUR][1000 genomes]
rs7939111	0.85[EUR][1000 genomes]
rs7940980	0.83[EUR][1000 genomes]
rs905770	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs947978	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv3328878	chr11:66107076-66111474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
10	nsv897783	chr11:66107527-66118676	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2236679	RP11-867G23.12	cis	Whole Blood	GTEx
rs2236679	RIN1	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66104200-66109000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:66104400-66110400	Strong transcription	Dnd41	blood
3	chr11:66104600-66109000	Weak transcription	Fetal Kidney	kidney
4	chr11:66104600-66109800	Strong transcription	Colonic Mucosa	Colon
5	chr11:66104600-66109800	Strong transcription	Lung	lung
6	chr11:66104600-66110000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:66104600-66110400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:66104600-66110400	Strong transcription	Fetal Intestine Large	intestine
9	chr11:66104600-66110400	Strong transcription	Right Ventricle	heart
10	chr11:66104600-66110800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:66104600-66111600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:66104800-66109600	Strong transcription	Brain Substantia Nigra	brain
13	chr11:66104800-66109600	Strong transcription	Rectal Smooth Muscle	rectum
14	chr11:66104800-66109800	Strong transcription	Left Ventricle	heart
15	chr11:66104800-66110000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:66104800-66110000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:66104800-66110000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:66104800-66110400	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:66104800-66110800	Strong transcription	Adipose Nuclei	Adipose
20	chr11:66104800-66110800	Strong transcription	Brain Cingulate Gyrus	brain
21	chr11:66104800-66110800	Weak transcription	Psoas Muscle	Psoas
22	chr11:66104800-66111000	Strong transcription	Primary T cells from cord blood	blood
23	chr11:66104800-66111200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:66104800-66111200	Strong transcription	Placenta	Placenta
25	chr11:66105000-66109000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:66105000-66109600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:66105000-66109800	Strong transcription	Liver	Liver
28	chr11:66105000-66110000	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr11:66105000-66110000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:66105000-66110400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:66105000-66110600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:66105000-66111000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:66105000-66111000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr11:66105000-66111200	Strong transcription	Fetal Intestine Small	intestine
35	chr11:66105200-66109800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:66105200-66110000	Strong transcription	Brain Hippocampus Middle	brain
37	chr11:66105200-66110400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:66105200-66110400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:66105200-66110600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr11:66105200-66110800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr11:66105200-66110800	Strong transcription	Brain Germinal Matrix	brain
42	chr11:66105200-66110800	Strong transcription	Fetal Stomach	stomach
43	chr11:66105200-66111000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:66105200-66111000	Strong transcription	Fetal Thymus	thymus
45	chr11:66105200-66111000	Strong transcription	Thymus	Thymus
46	chr11:66105200-66111200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:66105400-66109600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr11:66105400-66109600	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr11:66105400-66110800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:66105400-66110800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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