Variant report

Variant	rs57323610
Chromosome Location	chr7:104808444-104808445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104807148..104809594-chr7:104811696..104814300,3	K562	blood:
2	chr7:104806792..104808535-chr7:104816568..104819196,2	MCF-7	breast:
3	chr7:104807148..104809035-chr7:104811696..104814042,2	K562	blood:
4	chr7:104807370..104809469-chr7:104824579..104827530,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs2073550	0.83[ASN][1000 genomes]
rs2240456	0.93[ASN][1000 genomes]
rs2240462	1.00[ASN][1000 genomes]
rs2240464	0.97[ASN][1000 genomes]
rs2299296	0.93[ASN][1000 genomes]
rs2299300	0.83[ASN][1000 genomes]
rs2299301	0.83[ASN][1000 genomes]
rs2299302	0.97[ASN][1000 genomes]
rs2299307	1.00[ASN][1000 genomes]
rs2299310	0.94[ASN][1000 genomes]
rs2299317	0.87[ASN][1000 genomes]
rs2299318	0.87[ASN][1000 genomes]
rs2299329	0.81[ASN][1000 genomes]
rs28722876	0.93[ASN][1000 genomes]
rs3735370	0.87[ASN][1000 genomes]
rs3735371	0.87[ASN][1000 genomes]
rs3779206	0.87[ASN][1000 genomes]
rs3779211	1.00[ASN][1000 genomes]
rs3801280	0.87[ASN][1000 genomes]
rs3801286	0.94[ASN][1000 genomes]
rs3801287	1.00[ASN][1000 genomes]
rs56318802	0.94[ASN][1000 genomes]
rs56654846	1.00[ASN][1000 genomes]
rs56666353	1.00[ASN][1000 genomes]
rs56676421	1.00[ASN][1000 genomes]
rs56851478	0.93[ASN][1000 genomes]
rs57369490	0.97[ASN][1000 genomes]
rs57492989	1.00[ASN][1000 genomes]
rs58011998	0.87[ASN][1000 genomes]
rs58319797	0.87[ASN][1000 genomes]
rs58469240	0.93[ASN][1000 genomes]
rs58822458	0.87[ASN][1000 genomes]
rs58852948	0.87[ASN][1000 genomes]
rs59290277	0.93[ASN][1000 genomes]
rs59315868	0.87[ASN][1000 genomes]
rs59494471	0.81[ASN][1000 genomes]
rs59581221	0.93[ASN][1000 genomes]
rs59602427	0.87[ASN][1000 genomes]
rs60327543	0.87[ASN][1000 genomes]
rs60714423	0.97[ASN][1000 genomes]
rs60808750	0.81[ASN][1000 genomes]
rs60947765	0.87[ASN][1000 genomes]
rs60968925	0.87[ASN][1000 genomes]
rs61262987	1.00[ASN][1000 genomes]
rs61677699	1.00[ASN][1000 genomes]
rs61705676	1.00[ASN][1000 genomes]
rs73404094	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS 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 miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104678000-104812200	Strong transcription	Dnd41	blood
2	chr7:104753800-104822000	Weak transcription	Small Intestine	intestine
3	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
4	chr7:104777200-104809800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:104780000-104818800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:104780200-104818800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:104782600-104814000	Weak transcription	Colonic Mucosa	Colon
8	chr7:104782800-104845600	Weak transcription	Spleen	Spleen
9	chr7:104784200-104810400	Weak transcription	NHLF	lung
10	chr7:104784400-104818800	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:104786400-104812200	Weak transcription	Fetal Intestine Small	intestine
12	chr7:104787000-104813800	Weak transcription	Right Atrium	heart
13	chr7:104787600-104813400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:104791000-104813800	Weak transcription	Pancreas	Pancrea
15	chr7:104793200-104809600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:104796000-104809200	Strong transcription	Primary T cells from cord blood	blood
17	chr7:104796000-104810200	Strong transcription	Fetal Thymus	thymus
18	chr7:104799800-104810000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:104799800-104810000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr7:104799800-104811000	Weak transcription	Esophagus	oesophagus
21	chr7:104799800-104813800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:104800000-104809800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:104802000-104810800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:104802400-104810200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:104802800-104809200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:104803200-104809000	Strong transcription	HSMM	muscle
27	chr7:104803200-104809600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:104803200-104809600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:104803200-104809600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:104803200-104809800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr7:104803200-104809800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr7:104803400-104809600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:104803600-104809200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr7:104803600-104809600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:104803800-104809000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:104803800-104809600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:104803800-104809600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:104803800-104809800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:104803800-104810000	Strong transcription	Fetal Muscle Leg	muscle
40	chr7:104803800-104810200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:104804200-104808800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:104804200-104808800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:104804200-104809200	Strong transcription	Adipose Nuclei	Adipose
44	chr7:104804200-104809400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:104804200-104809600	Strong transcription	Osteobl	bone
46	chr7:104804200-104809800	Strong transcription	Primary B cells from cord blood	blood
47	chr7:104804200-104809800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:104804400-104808800	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr7:104804400-104809200	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr7:104804400-104809600	Strong transcription	Duodenum Smooth Muscle	Duodenum

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