Variant report

Variant	rs2299105
Chromosome Location	chr7:27813630-27813631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27701126..27704192-chr7:27812619..27816010,3	K562	blood:
2	chr7:27647308..27649264-chr7:27813060..27815813,2	K562	blood:
3	chr7:27700869..27702570-chr7:27811463..27814029,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10951185	1.00[CHB][hapmap]
rs12700848	1.00[JPT][hapmap]
rs16874395	0.87[YRI][hapmap]
rs17155954	0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs55901354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56916239	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56995723	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58546705	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58651394	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58947798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59041966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59614135	0.96[ASN][1000 genomes]
rs60636413	1.00[ASN][1000 genomes]
rs73684028	0.96[ASN][1000 genomes]
rs73684030	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73684035	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73684037	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73684045	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73684048	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73684050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73684052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73684053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73684055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73684057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73684058	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73685827	0.83[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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27780800-27815200	Weak transcription	Gastric	stomach
2	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
3	chr7:27784800-27834000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:27785000-27825000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:27787600-27825000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:27787800-27826600	Weak transcription	Small Intestine	intestine
8	chr7:27790200-27815200	Weak transcription	Psoas Muscle	Psoas
9	chr7:27790600-27825000	Weak transcription	NHLF	lung
10	chr7:27790600-27835000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:27790600-27857400	Weak transcription	Colonic Mucosa	Colon
12	chr7:27792200-27825000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:27792200-27825000	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:27792400-27822600	Weak transcription	HSMMtube	muscle
15	chr7:27792800-27825200	Weak transcription	Lung	lung
16	chr7:27796600-27819400	Weak transcription	Fetal Heart	heart
17	chr7:27798400-27817000	Weak transcription	Brain Anterior Caudate	brain
18	chr7:27798400-27817000	Weak transcription	Brain Substantia Nigra	brain
19	chr7:27798600-27822200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:27798600-27847800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:27798600-27874000	Weak transcription	Brain Angular Gyrus	brain
22	chr7:27801200-27825200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:27801200-27851800	Weak transcription	Fetal Brain Male	brain
24	chr7:27801400-27831400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:27801400-27838400	Weak transcription	Fetal Brain Female	brain
26	chr7:27801600-27815200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:27801600-27852800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:27801800-27825200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:27802800-27826200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:27804600-27824400	Weak transcription	Fetal Intestine Small	intestine
31	chr7:27805000-27816000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr7:27805800-27825200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr7:27805800-27832200	Weak transcription	Fetal Stomach	stomach
34	chr7:27805800-27857600	Weak transcription	Esophagus	oesophagus
35	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:27806400-27815200	Weak transcription	Pancreas	Pancrea
37	chr7:27806400-27825000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:27806400-27878600	Weak transcription	Right Ventricle	heart
39	chr7:27806600-27825200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:27806600-27827800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr7:27806800-27817000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:27808800-27816000	Strong transcription	Primary B cells from cord blood	blood
43	chr7:27809200-27813800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:27809200-27813800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:27809400-27813800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:27810200-27825000	Weak transcription	HepG2	liver
47	chr7:27810400-27815200	Weak transcription	Left Ventricle	heart
48	chr7:27810400-27831600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:27810400-27831600	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:27810600-27824800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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