Variant report

Variant	rs35310711
Chromosome Location	chr2:183814103-183814104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr2:183814037-183814658	K562	blood:	n/a	n/a
2	EP300	chr2:183813979-183815072	K562	blood:	n/a	n/a
3	JUN	chr2:183813053-183815288	K562	blood:	n/a	chr2:183815069-183815081
4	JUND	chr2:183813756-183814985	K562	blood:	n/a	n/a
5	KAP1	chr2:183814040-183814932	U2OS	brain:	n/a	n/a
6	POLR2A	chr2:183812580-183815455	K562	blood:	n/a	n/a
7	BHLHE40	chr2:183813878-183814800	K562	blood:	n/a	n/a
8	ATF1	chr2:183813973-183814881	K562	blood:	n/a	n/a
9	POLR2A	chr2:183813516-183814275	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183808744..183810851-chr2:183812471..183814250,2	K562	blood:
2	chr2:183808744..183810335-chr2:183812750..183814867,2	K562	blood:
3	chr2:183812719..183815141-chr2:183816615..183820380,4	K562	blood:

No data

Variant related genes	Relation type
NCKAP1	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11889337	0.90[EUR][1000 genomes]
rs12611998	0.92[EUR][1000 genomes]
rs12612383	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12618652	0.85[EUR][1000 genomes]
rs12991342	0.92[EUR][1000 genomes]
rs12992059	0.90[EUR][1000 genomes]
rs12992669	0.92[EUR][1000 genomes]
rs12994001	0.85[EUR][1000 genomes]
rs13000008	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13009031	0.95[EUR][1000 genomes]
rs13010139	0.92[EUR][1000 genomes]
rs16823896	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16823931	0.92[EUR][1000 genomes]
rs16823936	0.92[EUR][1000 genomes]
rs2138486	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34192739	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34254952	0.95[EUR][1000 genomes]
rs34644467	0.95[EUR][1000 genomes]
rs34873881	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34930236	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35175570	0.81[EUR][1000 genomes]
rs35318802	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35368327	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35488919	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35566709	0.92[EUR][1000 genomes]
rs35628169	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35720425	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35971883	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3791246	0.92[EUR][1000 genomes]
rs4666604	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4666876	0.92[EUR][1000 genomes]
rs4666881	0.95[EUR][1000 genomes]
rs4666882	0.85[EUR][1000 genomes]
rs55739115	0.90[EUR][1000 genomes]
rs66829551	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6714190	0.95[EUR][1000 genomes]
rs6718462	0.90[EUR][1000 genomes]
rs6726085	0.95[EUR][1000 genomes]
rs6730183	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6735651	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6745341	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6761953	0.95[EUR][1000 genomes]
rs71427864	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73042165	0.97[EUR][1000 genomes]
rs73980539	0.87[EUR][1000 genomes]
rs7589630	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7599002	0.92[EUR][1000 genomes]
rs7599011	0.92[EUR][1000 genomes]
rs7607857	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv3693446	chr2:183785598-183833514	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183773400-183866000	Weak transcription	Colonic Mucosa	Colon
2	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
3	chr2:183775600-183833000	Weak transcription	Pancreas	Pancrea
4	chr2:183780400-183874800	Weak transcription	Esophagus	oesophagus
5	chr2:183782200-183814200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:183785800-183824200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:183786400-183814200	Weak transcription	Aorta	Aorta
8	chr2:183786600-183826600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:183787000-183824000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:183788000-183830000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:183788200-183845600	Weak transcription	Lung	lung
12	chr2:183789200-183836400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:183790200-183814400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:183790800-183824200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:183793400-183840800	Weak transcription	Fetal Brain Male	brain
16	chr2:183793600-183814400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:183793600-183823800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:183793600-183826600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:183795200-183824200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:183795400-183814600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:183795400-183857600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:183798600-183814200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:183798600-183847000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:183800200-183817200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:183802800-183814400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:183802800-183817800	Weak transcription	Fetal Brain Female	brain
27	chr2:183803400-183815400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:183803800-183826600	Weak transcription	Brain Germinal Matrix	brain
29	chr2:183803800-183826600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:183804800-183859600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:183805600-183814400	Weak transcription	Placenta	Placenta
32	chr2:183805600-183874400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:183806000-183814800	Strong transcription	HSMM	muscle
34	chr2:183807400-183824200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:183810200-183814200	Weak transcription	Fetal Intestine Small	intestine
36	chr2:183811600-183815000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:183811800-183815200	Strong transcription	NHDF-Ad	bronchial
38	chr2:183812000-183816400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:183812000-183816600	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:183812000-183817400	Weak transcription	Fetal Kidney	kidney
41	chr2:183812000-183819600	Weak transcription	Brain Substantia Nigra	brain
42	chr2:183812000-183821200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:183812000-183839000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:183812000-183857800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:183812200-183814200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:183812200-183814200	Weak transcription	Fetal Stomach	stomach
47	chr2:183812200-183814400	Weak transcription	Adipose Nuclei	Adipose
48	chr2:183812200-183814400	Weak transcription	Brain Anterior Caudate	brain
49	chr2:183812200-183814600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:183812200-183814600	Weak transcription	Rectal Mucosa Donor 31	rectum

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