Variant report

Variant	rs6751501
Chromosome Location	chr2:47757577-47757578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47748591..47751031-chr2:47755310..47758617,3	MCF-7	breast:
2	chr2:47750662..47752920-chr2:47755355..47758272,2	K562	blood:
3	chr2:47753090..47755856-chr2:47756595..47758747,3	K562	blood:
4	chr2:47753090..47755856-chr2:47756080..47758113,3	K562	blood:
5	chr2:47756167..47758928-chr2:47763518..47766508,2	K562	blood:

Variant related genes	Relation type
ENSG00000235760	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11125141	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11675417	0.87[CEU][hapmap];0.89[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv817599	chr2:47738456-47961099	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47743600-47778200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:47748800-47761000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:47748800-47772800	Weak transcription	Gastric	stomach
4	chr2:47749000-47761800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:47749000-47771000	Weak transcription	Ovary	ovary
6	chr2:47749200-47761000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:47749200-47762400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:47749400-47760000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:47749400-47760600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:47752600-47758000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:47753000-47758600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:47754600-47757600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:47754800-47760800	Weak transcription	Fetal Stomach	stomach
14	chr2:47755400-47761000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:47755800-47760800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:47756000-47758800	Enhancers	Fetal Muscle Leg	muscle
17	chr2:47756000-47760600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:47756000-47760600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:47756000-47761000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:47756000-47761200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:47756200-47760600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:47756200-47761200	Weak transcription	Fetal Brain Female	brain
23	chr2:47756400-47760400	Weak transcription	NH-A	brain
24	chr2:47756400-47760600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:47756400-47761800	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:47756400-47771400	Weak transcription	Brain Germinal Matrix	brain
27	chr2:47756800-47760800	Weak transcription	HSMM	muscle
28	chr2:47757000-47757600	Enhancers	Fetal Brain Male	brain
29	chr2:47757000-47760800	Weak transcription	HUVEC	blood vessel
30	chr2:47757200-47757600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:47757200-47757600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:47757200-47757600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:47757200-47757600	Enhancers	Right Atrium	heart
34	chr2:47757200-47757800	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:47757200-47758000	Enhancers	Left Ventricle	heart
36	chr2:47757200-47759400	Enhancers	Right Ventricle	heart
37	chr2:47757400-47761800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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