Variant report

Variant	rs35643003
Chromosome Location	chr2:112782264-112782265
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112768373..112770861-chr2:112779759..112782359,2	K562	blood:
2	chr2:112776644..112779105-chr2:112781568..112783871,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153208	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10169022	0.81[ASN][1000 genomes]
rs10207301	0.83[ASN][1000 genomes]
rs10496439	0.81[EUR][1000 genomes]
rs1122970	0.91[EUR][1000 genomes]
rs11673729	0.81[EUR][1000 genomes]
rs11674226	0.88[EUR][1000 genomes]
rs11674883	0.91[EUR][1000 genomes]
rs11674891	0.84[EUR][1000 genomes]
rs11678522	0.83[EUR][1000 genomes]
rs11679125	0.83[ASN][1000 genomes]
rs11679593	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11679801	0.91[EUR][1000 genomes]
rs11680463	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11681063	0.92[EUR][1000 genomes]
rs11682629	0.91[EUR][1000 genomes]
rs11683694	0.90[EUR][1000 genomes]
rs11684321	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684476	0.83[ASN][1000 genomes]
rs11685190	0.92[EUR][1000 genomes]
rs11686647	0.83[EUR][1000 genomes]
rs11687451	0.83[EUR][1000 genomes]
rs11690440	0.83[EUR][1000 genomes]
rs11692445	0.90[EUR][1000 genomes]
rs11897014	0.82[ASN][1000 genomes]
rs12995767	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13001162	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13003919	0.94[EUR][1000 genomes]
rs13006203	0.81[EUR][1000 genomes]
rs13006228	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13013340	0.87[EUR][1000 genomes]
rs13020304	0.92[EUR][1000 genomes]
rs13020353	0.90[EUR][1000 genomes]
rs13024271	0.81[EUR][1000 genomes]
rs13025651	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13027171	0.83[EUR][1000 genomes]
rs13033393	0.88[EUR][1000 genomes]
rs17174697	0.81[EUR][1000 genomes]
rs17779482	0.81[EUR][1000 genomes]
rs1967530	0.81[EUR][1000 genomes]
rs2271701	0.91[EUR][1000 genomes]
rs2871876	0.81[EUR][1000 genomes]
rs34128716	0.85[EUR][1000 genomes]
rs34240639	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34527376	0.94[EUR][1000 genomes]
rs34593596	0.83[ASN][1000 genomes]
rs34705448	0.91[EUR][1000 genomes]
rs34875611	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34928784	0.81[EUR][1000 genomes]
rs34974369	0.83[EUR][1000 genomes]
rs34983493	0.81[EUR][1000 genomes]
rs35189728	0.91[EUR][1000 genomes]
rs35379879	0.91[EUR][1000 genomes]
rs35382200	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35471545	0.80[EUR][1000 genomes]
rs35757708	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3761699	0.90[EUR][1000 genomes]
rs3811633	0.94[EUR][1000 genomes]
rs3811634	0.94[EUR][1000 genomes]
rs4264571	0.83[EUR][1000 genomes]
rs4441478	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4848229	0.87[EUR][1000 genomes]
rs4848238	0.94[EUR][1000 genomes]
rs4848241	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4848861	0.83[EUR][1000 genomes]
rs4848874	0.83[EUR][1000 genomes]
rs4848899	0.91[EUR][1000 genomes]
rs4848958	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4848971	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4848973	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4848975	0.83[ASN][1000 genomes]
rs4848980	0.83[EUR][1000 genomes]
rs56361454	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6541942	0.81[EUR][1000 genomes]
rs6731215	0.82[EUR][1000 genomes]
rs6736093	0.81[EUR][1000 genomes]
rs6743523	0.87[EUR][1000 genomes]
rs6754526	0.91[EUR][1000 genomes]
rs6755101	0.81[EUR][1000 genomes]
rs71414616	0.88[EUR][1000 genomes]
rs72829613	0.83[ASN][1000 genomes]
rs7349221	0.83[EUR][1000 genomes]
rs7370418	0.87[EUR][1000 genomes]
rs74182850	0.83[EUR][1000 genomes]
rs7422195	0.88[ASN][1000 genomes]
rs7578435	0.92[EUR][1000 genomes]
rs7586558	0.84[ASN][1000 genomes]
rs7595212	0.81[EUR][1000 genomes]
rs7604403	0.81[EUR][1000 genomes]
rs870761	0.92[EUR][1000 genomes]
rs870763	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv999746	chr2:112691270-112796083	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1003129	chr2:112691270-112816694	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv2760607	chr2:112691282-112803423	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv431491	chr2:112699350-112793981	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv515698	chr2:112699350-112795908	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv933392	chr2:112747230-112792349	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112713200-112790600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:112723400-112789200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:112733200-112789200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:112753000-112784000	Weak transcription	Fetal Lung	lung
5	chr2:112755400-112789200	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:112758200-112789600	Weak transcription	Fetal Kidney	kidney
7	chr2:112761800-112784000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:112762200-112782600	Weak transcription	Esophagus	oesophagus
9	chr2:112765800-112789600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:112768000-112789200	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:112768600-112789600	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:112769000-112789000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:112769000-112789200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:112769200-112788400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:112769200-112789200	Weak transcription	Adipose Nuclei	Adipose
16	chr2:112769600-112791200	Weak transcription	Colonic Mucosa	Colon
17	chr2:112770000-112782400	Weak transcription	Ovary	ovary
18	chr2:112770200-112789400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:112770600-112787600	Weak transcription	Brain Angular Gyrus	brain
20	chr2:112771400-112786000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:112771400-112789000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:112774400-112786400	Strong transcription	Liver	Liver
23	chr2:112774400-112790200	Weak transcription	Right Atrium	heart
24	chr2:112776600-112782600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:112777000-112783200	Strong transcription	Brain Anterior Caudate	brain
26	chr2:112777200-112789200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:112777400-112786000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:112777400-112789400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:112777600-112788800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:112777800-112784400	Strong transcription	HepG2	liver
31	chr2:112778200-112783200	Strong transcription	Fetal Stomach	stomach
32	chr2:112778800-112784400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:112778800-112784600	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr2:112778800-112787200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:112779200-112783000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr2:112779400-112787400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:112780200-112782600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:112780200-112783200	Strong transcription	Fetal Intestine Large	intestine
39	chr2:112780200-112783200	Strong transcription	Fetal Intestine Small	intestine
40	chr2:112780200-112786000	Weak transcription	Gastric	stomach
41	chr2:112780200-112789800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:112780400-112784000	Weak transcription	K562	blood
43	chr2:112780400-112784200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:112780400-112786000	Weak transcription	Left Ventricle	heart
45	chr2:112780400-112787600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:112780600-112789200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:112780800-112782600	Weak transcription	Aorta	Aorta
48	chr2:112781200-112782600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:112781200-112783200	Strong transcription	Right Ventricle	heart
50	chr2:112781400-112783600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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