Variant report

Variant	rs6735717
Chromosome Location	chr2:112780064-112780065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112779447..112781185-chr2:112788377..112790011,2	MCF-7	breast:
2	chr2:112648375..112650802-chr2:112777900..112780548,2	K562	blood:
3	chr2:112768373..112770861-chr2:112779759..112782359,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10165940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10168067	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10175344	0.90[EUR][1000 genomes]
rs10179948	0.93[AMR][1000 genomes]
rs10180086	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10181117	1.00[AMR][1000 genomes]
rs10182764	0.90[EUR][1000 genomes]
rs10182931	0.90[EUR][1000 genomes]
rs10190471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10198007	1.00[AMR][1000 genomes]
rs10203902	0.80[AFR][1000 genomes]
rs10205793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10211152	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13313775	0.90[EUR][1000 genomes]
rs13383743	0.90[EUR][1000 genomes]
rs13387346	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13394094	0.90[EUR][1000 genomes]
rs13396030	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13397194	1.00[AMR][1000 genomes]
rs13401834	1.00[AMR][1000 genomes]
rs13402707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13404771	1.00[AMR][1000 genomes]
rs13411851	0.90[EUR][1000 genomes]
rs13416895	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13419523	0.99[AFR][1000 genomes]
rs13421261	0.90[EUR][1000 genomes]
rs13430221	1.00[AMR][1000 genomes]
rs2230517	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28529268	1.00[AMR][1000 genomes]
rs56264210	0.86[AMR][1000 genomes]
rs6723289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6723394	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6755828	0.96[AFR][1000 genomes]
rs72823495	0.86[AMR][1000 genomes]
rs72825696	0.97[EUR][1000 genomes]
rs72829620	0.90[EUR][1000 genomes]
rs9631022	0.90[EUR][1000 genomes]
rs9631023	0.90[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:66 , 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	chr2:112769200-112781200	Weak transcription	Pancreas	Pancrea
15	chr2:112769200-112788400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:112769200-112789200	Weak transcription	Adipose Nuclei	Adipose
17	chr2:112769600-112791200	Weak transcription	Colonic Mucosa	Colon
18	chr2:112770000-112782400	Weak transcription	Ovary	ovary
19	chr2:112770200-112781400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr2:112770200-112789400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:112770400-112781800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:112770600-112787600	Weak transcription	Brain Angular Gyrus	brain
23	chr2:112771400-112786000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:112771400-112789000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:112774400-112786400	Strong transcription	Liver	Liver
26	chr2:112774400-112790200	Weak transcription	Right Atrium	heart
27	chr2:112776400-112781200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:112776600-112780800	Strong transcription	Aorta	Aorta
29	chr2:112776600-112782600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:112777000-112781400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:112777000-112781600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:112777000-112783200	Strong transcription	Brain Anterior Caudate	brain
33	chr2:112777200-112789200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:112777400-112786000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:112777400-112789400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:112777600-112788800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:112777800-112784400	Strong transcription	HepG2	liver
38	chr2:112778000-112782200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:112778200-112780200	Genic enhancers	Fetal Intestine Small	intestine
40	chr2:112778200-112781400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:112778200-112781600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:112778200-112783200	Strong transcription	Fetal Stomach	stomach
43	chr2:112778400-112780200	Strong transcription	Gastric	stomach
44	chr2:112778400-112780400	Enhancers	K562	blood
45	chr2:112778600-112780200	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr2:112778800-112780200	Strong transcription	Brain Substantia Nigra	brain
47	chr2:112778800-112780600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:112778800-112784400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:112778800-112784600	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr2:112778800-112787200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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