Variant report

Variant	rs730419
Chromosome Location	chr2:208890214-208890215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:208883906..208887647-chr2:208888508..208891752,4	MCF-7	breast:
2	chr2:208883791..208887954-chr2:208888473..208891537,5	MCF-7	breast:
3	chr16:67597162..67598028-chr2:208889788..208890692,2	Hela-S3	cervix:
4	chr2:208633363..208636354-chr2:208889689..208891369,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163251	Chromatin interaction
ENSG00000261386	Chromatin interaction
ENSG00000212246	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10176821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10176955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10192852	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10200490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11893075	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11899909	1.00[AMR][1000 genomes]
rs13383276	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13391113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73066727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73066744	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73066746	0.97[AFR][1000 genomes];1.00[AMR][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208888200-208890400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:208889000-208890400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:208889000-208890400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr2:208889000-208890400	Active TSS	Brain Germinal Matrix	brain
5	chr2:208889000-208890400	Active TSS	K562	blood
6	chr2:208889000-208890600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:208889000-208890600	Active TSS	Brain Angular Gyrus	brain
8	chr2:208889000-208890600	Active TSS	Stomach Smooth Muscle	stomach
9	chr2:208889200-208890400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:208889200-208890400	Active TSS	Fetal Brain Male	brain
11	chr2:208889200-208890400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr2:208889200-208890400	Active TSS	HMEC	breast
13	chr2:208889200-208890600	Active TSS	Brain Cingulate Gyrus	brain
14	chr2:208889200-208890600	Active TSS	Fetal Intestine Large	intestine
15	chr2:208889400-208890400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr2:208889400-208890400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:208889400-208890400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:208889400-208890400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr2:208889400-208890400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr2:208889400-208890400	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr2:208889400-208890400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:208889400-208890400	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr2:208889400-208890400	Active TSS	Muscle Satellite Cultured Cells	--
24	chr2:208889400-208890400	Active TSS	Fetal Brain Female	brain
25	chr2:208889400-208890400	Active TSS	Fetal Intestine Small	intestine
26	chr2:208889400-208890400	Active TSS	Fetal Muscle Leg	muscle
27	chr2:208889400-208890400	Active TSS	Placenta	Placenta
28	chr2:208889400-208890400	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr2:208889400-208890400	Active TSS	A549	lung
30	chr2:208889400-208890400	Active TSS	Hela-S3	cervix
31	chr2:208889400-208890400	Active TSS	HSMMtube	muscle
32	chr2:208889400-208890400	Active TSS	NHDF-Ad	bronchial
33	chr2:208889400-208890600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:208889400-208890600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:208889400-208890600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:208889400-208890600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:208889400-208890600	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr2:208889400-208890600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:208889400-208890600	Active TSS	Brain Substantia Nigra	brain
40	chr2:208889400-208890600	Active TSS	Rectal Smooth Muscle	rectum
41	chr2:208889400-208890600	Active TSS	Right Atrium	heart
42	chr2:208889400-208890600	Active TSS	Right Ventricle	heart
43	chr2:208889400-208890600	Active TSS	NHLF	lung
44	chr2:208889400-208890800	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr2:208889400-208890800	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr2:208889400-208890800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr2:208889400-208890800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr2:208889400-208890800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:208889400-208890800	Active TSS	Brain Anterior Caudate	brain
50	chr2:208889400-208891000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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