Variant report

Variant	rs2108324
Chromosome Location	chr7:105479486-105479487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105467716..105469978-chr7:105478235..105481087,2	MCF-7	breast:
2	chr7:105471516..105474316-chr7:105479305..105481935,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10229491	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212414	1.00[CHB][hapmap]
rs212415	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4727628	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740309	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781203	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792471	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886797	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105465400-105506600	Weak transcription	Fetal Intestine Large	intestine
2	chr7:105471600-105479800	Weak transcription	Gastric	stomach
3	chr7:105471800-105483600	Weak transcription	Pancreas	Pancrea
4	chr7:105471800-105484000	Weak transcription	Primary T cells from cord blood	blood
5	chr7:105472400-105489800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:105473000-105494400	Weak transcription	Fetal Lung	lung
7	chr7:105473200-105490000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:105473400-105484400	Weak transcription	Hela-S3	cervix
9	chr7:105473800-105480400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr7:105473800-105481000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:105477400-105480000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:105477600-105480800	Enhancers	Fetal Brain Male	brain
13	chr7:105477800-105480000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:105478000-105479600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:105478000-105479600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:105478000-105479600	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr7:105478000-105480000	Enhancers	Brain Substantia Nigra	brain
18	chr7:105478000-105480000	Enhancers	Fetal Heart	heart
19	chr7:105478000-105480000	Enhancers	Left Ventricle	heart
20	chr7:105478000-105480000	Enhancers	Right Ventricle	heart
21	chr7:105478000-105480400	Enhancers	Fetal Muscle Leg	muscle
22	chr7:105478000-105481000	Enhancers	Lung	lung
23	chr7:105478000-105481800	Enhancers	Fetal Muscle Trunk	muscle
24	chr7:105478000-105482200	Enhancers	Rectal Smooth Muscle	rectum
25	chr7:105478200-105479600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:105478200-105479600	Enhancers	HSMM	muscle
27	chr7:105478200-105480000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr7:105478200-105480200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr7:105478400-105479600	Enhancers	HSMMtube	muscle
30	chr7:105478400-105480000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:105478400-105480000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:105478400-105480000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr7:105478400-105480400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:105478400-105481000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:105478400-105481600	Weak transcription	Psoas Muscle	Psoas
36	chr7:105478600-105479600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:105478600-105479600	Enhancers	Duodenum Mucosa	Duodenum
38	chr7:105478600-105479800	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr7:105478600-105480000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:105478600-105480000	Enhancers	NH-A	brain
41	chr7:105478600-105482000	Enhancers	NHEK	skin
42	chr7:105478600-105483200	Enhancers	HMEC	breast
43	chr7:105478600-105483400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:105478800-105479600	Enhancers	Fetal Intestine Small	intestine
45	chr7:105478800-105479600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:105478800-105479800	Enhancers	Fetal Stomach	stomach
47	chr7:105478800-105480000	Enhancers	Brain Anterior Caudate	brain
48	chr7:105478800-105480000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr7:105478800-105480000	Enhancers	Spleen	Spleen
50	chr7:105478800-105480200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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