Variant report

Variant	rs11678996
Chromosome Location	chr2:113387133-113387134
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113386067..113388065-chr2:113482724..113484459,2	MCF-7	breast:
2	chr2:113383343..113387238-chr2:113388797..113391596,3	MCF-7	breast:
3	chr2:113361529..113364107-chr2:113384618..113387242,2	K562	blood:
4	chr2:113385104..113391547-chr2:113463938..113470179,6	K562	blood:

Variant related genes	Relation type
ENSG00000144130	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11676691	0.89[EUR][1000 genomes]
rs11677284	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11680446	0.98[ASN][1000 genomes]
rs12476928	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13023016	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3088301	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35743012	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4368335	0.85[EUR][1000 genomes]
rs4848284	0.82[EUR][1000 genomes]
rs4849078	0.83[EUR][1000 genomes]
rs4849079	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4849083	0.82[EUR][1000 genomes]
rs4849084	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62158654	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6724434	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6758898	0.80[EUR][1000 genomes]
rs908545	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer 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	51 gene(s)	inside rSNPs	diseases
4	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113372400-113388600	Weak transcription	Gastric	stomach
2	chr2:113372800-113388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:113379800-113387600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:113380200-113387600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:113380400-113387600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:113380800-113388400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:113381400-113388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:113381600-113388200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:113381600-113389600	Enhancers	Placenta	Placenta
10	chr2:113382400-113387600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:113384200-113392400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:113384600-113387800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:113384600-113387800	Weak transcription	Liver	Liver
14	chr2:113384600-113388000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr2:113384600-113388000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:113384600-113388000	Weak transcription	Left Ventricle	heart
17	chr2:113384600-113388600	Weak transcription	Right Ventricle	heart
18	chr2:113384600-113389800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:113384600-113390000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:113384800-113387800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:113384800-113388200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:113384800-113388600	Weak transcription	Brain Angular Gyrus	brain
23	chr2:113384800-113388600	Weak transcription	Lung	lung
24	chr2:113384800-113389000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:113384800-113389200	Weak transcription	Fetal Brain Female	brain
26	chr2:113385000-113387200	Enhancers	NHLF	lung
27	chr2:113385000-113387800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr2:113385000-113387800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:113385000-113387800	Enhancers	HMEC	breast
30	chr2:113385000-113387800	Enhancers	HUVEC	blood vessel
31	chr2:113385000-113388000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr2:113385000-113388000	Weak transcription	Aorta	Aorta
33	chr2:113385000-113388400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:113385000-113389600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:113385000-113389800	Enhancers	NHDF-Ad	bronchial
36	chr2:113385000-113396000	Weak transcription	Colonic Mucosa	Colon
37	chr2:113385000-113402600	Weak transcription	Esophagus	oesophagus
38	chr2:113385200-113387200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:113385200-113387400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:113385200-113387400	Weak transcription	Dnd41	blood
41	chr2:113385200-113388000	Weak transcription	Spleen	Spleen
42	chr2:113385200-113388000	Enhancers	A549	lung
43	chr2:113385200-113388200	Enhancers	Osteobl	bone
44	chr2:113385200-113388600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:113385200-113388600	Enhancers	NH-A	brain
46	chr2:113385200-113390600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:113385400-113387800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:113385400-113388000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:113385400-113388400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr2:113385400-113389400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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