Variant report

Variant	rs11681295
Chromosome Location	chr2:112685436-112685437
allele	A/C
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	RCOR1	chr2:112685322-112685702	K562	blood:	n/a	n/a
2	CCNT2	chr2:112685290-112685661	K562	blood:	n/a	n/a
3	CTCF	chr2:112685374-112685696	K562	blood:	n/a	n/a
4	GATA1	chr2:112685088-112685751	K562	blood:	n/a	chr2:112685529-112685550
5	ZMIZ1	chr2:112685329-112685659	K562	blood:	n/a	n/a
6	TEAD4	chr2:112685253-112685739	K562	blood:	n/a	n/a
7	GATA1	chr2:112685130-112685766	PBDE	blood:	n/a	chr2:112685529-112685550
8	TBL1XR1	chr2:112685370-112685657	K562	blood:	n/a	n/a
9	RCOR1	chr2:112685288-112685673	K562	blood:	n/a	n/a
10	HMGN3	chr2:112685337-112685555	K562	blood:	n/a	n/a
11	EP300	chr2:112685301-112685730	K562	blood:	n/a	chr2:112685508-112685521
12	TAL1	chr2:112685288-112685729	K562	blood:	n/a	n/a
13	MAZ	chr2:112685310-112685637	K562	blood:	n/a	n/a
14	CEBPB	chr2:112685265-112685530	K562	blood:	n/a	n/a
15	TEAD4	chr2:112685286-112685694	K562	blood:	n/a	n/a
16	GATA2	chr2:112685314-112685687	K562	blood:	n/a	chr2:112685529-112685550
17	CEBPD	chr2:112685233-112685654	K562	blood:	n/a	n/a
18	CEBPD	chr2:112685265-112685786	K562	blood:	n/a	n/a
19	POLR2A	chr2:112685422-112685621	K562	blood:	n/a	n/a
20	ZNF384	chr2:112685322-112685971	K562	blood:	n/a	n/a
21	POLR2A	chr2:112685277-112685650	K562	blood:	n/a	n/a
22	JUND	chr2:112685421-112685654	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112680614..112683730-chr2:112685370..112687144,3	K562	blood:

Variant related genes	Relation type
RN7SL297P	TF binding region

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10166564	0.88[ASN][1000 genomes]
rs10171174	0.86[ASN][1000 genomes]
rs10173553	0.88[ASN][1000 genomes]
rs10175316	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10177803	0.88[ASN][1000 genomes]
rs10180345	0.88[ASN][1000 genomes]
rs10186291	0.88[ASN][1000 genomes]
rs10188642	0.88[ASN][1000 genomes]
rs10189399	0.86[ASN][1000 genomes]
rs10199083	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10199616	0.88[ASN][1000 genomes]
rs10207820	0.96[ASN][1000 genomes]
rs10210692	0.88[ASN][1000 genomes]
rs11123035	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123073	0.88[ASN][1000 genomes]
rs1113418	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1131244	0.88[ASN][1000 genomes]
rs11673958	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11676037	0.88[ASN][1000 genomes]
rs11680354	0.88[ASN][1000 genomes]
rs11683409	0.87[ASN][1000 genomes]
rs11683421	0.88[ASN][1000 genomes]
rs11690939	0.89[ASN][1000 genomes]
rs12711677	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12992449	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13385764	0.88[ASN][1000 genomes]
rs13386914	0.95[ASN][1000 genomes]
rs13391947	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13394651	0.88[ASN][1000 genomes]
rs13397063	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13399108	0.86[ASN][1000 genomes]
rs13419106	0.86[ASN][1000 genomes]
rs1400322	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1400323	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1516627	0.96[ASN][1000 genomes]
rs1516628	0.88[ASN][1000 genomes]
rs1516639	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1516640	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1554214	0.88[ASN][1000 genomes]
rs1554215	0.88[ASN][1000 genomes]
rs1607059	0.88[ASN][1000 genomes]
rs1607060	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17042094	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17042095	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1996322	0.88[ASN][1000 genomes]
rs1996323	0.88[ASN][1000 genomes]
rs1996325	0.88[ASN][1000 genomes]
rs1996326	0.88[ASN][1000 genomes]
rs1996327	0.88[ASN][1000 genomes]
rs1996328	0.99[ASN][1000 genomes]
rs1996329	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996330	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2001200	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2230515	0.88[ASN][1000 genomes]
rs2311813	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2312226	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28637361	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871922	0.94[ASN][1000 genomes]
rs34067354	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34648366	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35096883	0.88[ASN][1000 genomes]
rs35776963	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3761700	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3761701	0.96[ASN][1000 genomes]
rs3811636	0.88[ASN][1000 genomes]
rs3811637	0.88[ASN][1000 genomes]
rs4290663	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4303721	0.88[ASN][1000 genomes]
rs4353657	0.88[ASN][1000 genomes]
rs4380244	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4468823	0.99[ASN][1000 genomes]
rs4511729	0.87[ASN][1000 genomes]
rs4519530	0.88[ASN][1000 genomes]
rs4632346	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4848227	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4848901	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4848918	0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4848923	0.88[ASN][1000 genomes]
rs4848933	0.88[ASN][1000 genomes]
rs55757240	0.87[ASN][1000 genomes]
rs56097129	0.81[ASN][1000 genomes]
rs6541971	0.94[ASN][1000 genomes]
rs66477683	0.88[ASN][1000 genomes]
rs66486378	0.88[ASN][1000 genomes]
rs67063370	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711987	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6725192	0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6726639	0.88[ASN][1000 genomes]
rs6734384	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6739294	0.88[ASN][1000 genomes]
rs6742470	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6755970	0.97[ASN][1000 genomes]
rs68087924	0.88[ASN][1000 genomes]
rs7564225	0.88[ASN][1000 genomes]
rs7571009	0.88[ASN][1000 genomes]
rs7571120	0.88[ASN][1000 genomes]
rs7571447	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7579906	0.94[ASN][1000 genomes]
rs7588459	0.88[ASN][1000 genomes]
rs7592909	0.88[ASN][1000 genomes]
rs7601798	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7604639	0.88[ASN][1000 genomes]
rs7605527	0.86[ASN][1000 genomes]
rs868500	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs869016	0.85[ASN][1000 genomes]
rs870762	0.88[ASN][1000 genomes]
rs884448	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs908518	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv998028	chr2:112649472-112734015	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv582701	chr2:112649472-112740597	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv526647	chr2:112651316-112738562	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv582702	chr2:112651316-112738562	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112664600-112687600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:112664600-112702200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:112666400-112692800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:112674600-112687400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:112674800-112687600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:112676400-112702200	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:112677800-112697800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:112678000-112687600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:112678000-112688600	Weak transcription	A549	lung
10	chr2:112678000-112690600	Weak transcription	Small Intestine	intestine
11	chr2:112678000-112691200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:112678000-112705600	Weak transcription	Esophagus	oesophagus
13	chr2:112678200-112686600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:112678200-112687600	Weak transcription	Adipose Nuclei	Adipose
15	chr2:112678800-112689800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:112679400-112686800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:112679800-112686800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:112679800-112686800	Weak transcription	Fetal Intestine Large	intestine
19	chr2:112681200-112686400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:112681200-112686400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:112681200-112686600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:112682000-112686800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:112682400-112686400	Weak transcription	HUVEC	blood vessel
24	chr2:112682400-112687600	Weak transcription	Aorta	Aorta
25	chr2:112682400-112687800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:112682400-112703200	Weak transcription	Placenta	Placenta
27	chr2:112682800-112686200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:112683200-112703200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:112683400-112698600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:112684200-112685600	Enhancers	Right Atrium	heart
31	chr2:112684200-112686000	Enhancers	Liver	Liver
32	chr2:112684400-112685600	Enhancers	Brain Angular Gyrus	brain
33	chr2:112684400-112685600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:112684400-112685600	Enhancers	Right Ventricle	heart
35	chr2:112684400-112686800	Enhancers	K562	blood
36	chr2:112684400-112688400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:112684600-112686600	Weak transcription	Fetal Kidney	kidney
38	chr2:112684600-112703000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:112684800-112685600	Enhancers	Brain Anterior Caudate	brain
40	chr2:112684800-112686600	Weak transcription	Gastric	stomach
41	chr2:112684800-112686600	Weak transcription	Lung	lung
42	chr2:112684800-112686600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:112684800-112687200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:112684800-112687600	Weak transcription	Spleen	Spleen
45	chr2:112684800-112705200	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:112685000-112686200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:112685000-112686200	Weak transcription	Fetal Intestine Small	intestine
48	chr2:112685000-112686600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:112685000-112686600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:112685000-112686600	Weak transcription	Fetal Stomach	stomach

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