Variant report

Variant	rs2907951
Chromosome Location	chr7:140388185-140388186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140370759..140373061-chr7:140385550..140389876,3	MCF-7	breast:
2	chr7:140373332..140374957-chr7:140387731..140389586,2	MCF-7	breast:
3	chr7:140388053..140392866-chr7:140393585..140398020,10	MCF-7	breast:
4	chr7:140379583..140384830-chr7:140386891..140389682,4	K562	blood:
5	chr7:140370608..140383131-chr7:140387718..140398587,28	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240889	Chromatin interaction
ENSG00000133597	Chromatin interaction
ENSG00000146966	Chromatin interaction
ENSG00000090266	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1106846	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11977567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28828674	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2907952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2908235	0.88[EUR][1000 genomes]
rs2930316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930317	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930320	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2930323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930326	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2930330	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930332	0.86[EUR][1000 genomes]
rs2968546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968556	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56347011	1.00[ASN][1000 genomes]
rs6969644	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6977496	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7785630	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv3409803	chr7:140383844-140390406	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2907951	ADCK2	Cis_1M	lymphoblastoid	RTeQTL
rs2907951	ADCK2	cis	Nerve Tibial	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140373800-140395600	Weak transcription	NH-A	brain
2	chr7:140373800-140395800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:140373800-140396000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:140374000-140395800	Weak transcription	Fetal Lung	lung
5	chr7:140374000-140395800	Weak transcription	Right Atrium	heart
6	chr7:140374200-140395800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:140374200-140396000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:140374200-140396000	Weak transcription	Psoas Muscle	Psoas
9	chr7:140374400-140395600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:140374400-140396200	Weak transcription	Small Intestine	intestine
11	chr7:140374600-140395600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:140374600-140395600	Weak transcription	A549	lung
13	chr7:140374600-140395800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:140374600-140395800	Weak transcription	Fetal Kidney	kidney
15	chr7:140374800-140395800	Weak transcription	Stomach Mucosa	stomach
16	chr7:140375400-140392200	Strong transcription	Primary T cells from cord blood	blood
17	chr7:140375400-140394600	Weak transcription	Osteobl	bone
18	chr7:140375400-140395400	Strong transcription	Fetal Stomach	stomach
19	chr7:140375400-140395600	Weak transcription	HMEC	breast
20	chr7:140375600-140395600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:140375600-140395600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:140375600-140395800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:140375800-140390200	Strong transcription	Fetal Thymus	thymus
24	chr7:140375800-140395600	Weak transcription	Fetal Brain Male	brain
25	chr7:140375800-140395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:140375800-140395800	Weak transcription	NHDF-Ad	bronchial
27	chr7:140376000-140393200	Strong transcription	Placenta	Placenta
28	chr7:140376000-140395600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr7:140376000-140395800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr7:140376200-140393400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:140376400-140390200	Strong transcription	Dnd41	blood
32	chr7:140376600-140390200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr7:140376600-140395800	Weak transcription	GM12878-XiMat	blood
34	chr7:140376800-140395600	Strong transcription	Fetal Intestine Small	intestine
35	chr7:140377400-140390200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:140377400-140390200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:140377400-140392800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr7:140377400-140394400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:140377600-140390200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr7:140377600-140390400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:140377600-140393200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:140377800-140391800	Strong transcription	Spleen	Spleen
43	chr7:140377800-140394800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:140377800-140394800	Strong transcription	Thymus	Thymus
45	chr7:140378000-140390200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr7:140378000-140390200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr7:140378000-140392200	Strong transcription	Lung	lung
48	chr7:140378400-140392600	Strong transcription	Adipose Nuclei	Adipose
49	chr7:140378600-140389800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:140378800-140390200	Strong transcription	Primary B cells from peripheral blood	blood

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