Variant report

Variant	rs2968556
Chromosome Location	chr7:140377964-140377965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140370608..140383131-chr7:140387718..140398587,28	MCF-7	breast:
2	chr7:140376401..140379049-chr7:140712794..140714370,2	K562	blood:
3	chr7:140371193..140374993-chr7:140376654..140380151,6	MCF-7	breast:
4	chr7:140376267..140379016-chr7:140712794..140714827,3	K562	blood:
5	chr7:140371506..140376729-chr7:140377280..140380130,6	K562	blood:

Variant related genes	Relation type
ENSG00000090263	Chromatin interaction
ENSG00000133597	Chromatin interaction
ENSG00000146966	Chromatin interaction
ENSG00000240889	Chromatin interaction
ENSG00000090266	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1106846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11977567	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28828674	0.81[AMR][1000 genomes]
rs2907951	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2907952	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2908235	0.94[EUR][1000 genomes]
rs2930316	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2930317	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2930320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2930323	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2930325	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2930326	0.81[AMR][1000 genomes]
rs2930330	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2930332	0.92[EUR][1000 genomes]
rs2968546	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2968554	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6969644	0.81[AMR][1000 genomes]
rs6977496	0.81[AMR][1000 genomes]
rs7785630	0.81[AMR][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2968556	ADCK2	cis	Nerve Tibial	GTEx
rs2968556	ADCK2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140373400-140383200	Weak transcription	HSMMtube	muscle
2	chr7:140373600-140385400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:140373800-140378200	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:140373800-140378800	Weak transcription	Left Ventricle	heart
5	chr7:140373800-140380200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:140373800-140395600	Weak transcription	NH-A	brain
7	chr7:140373800-140395800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:140373800-140396000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:140374000-140379000	Weak transcription	Fetal Intestine Large	intestine
10	chr7:140374000-140395800	Weak transcription	Fetal Lung	lung
11	chr7:140374000-140395800	Weak transcription	Right Atrium	heart
12	chr7:140374200-140395800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:140374200-140396000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:140374200-140396000	Weak transcription	Psoas Muscle	Psoas
15	chr7:140374400-140378600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:140374400-140395600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:140374400-140396200	Weak transcription	Small Intestine	intestine
18	chr7:140374600-140378000	Weak transcription	Lung	lung
19	chr7:140374600-140378400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:140374600-140378400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:140374600-140378600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:140374600-140378600	Weak transcription	Right Ventricle	heart
23	chr7:140374600-140380000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:140374600-140383200	Weak transcription	HUVEC	blood vessel
25	chr7:140374600-140395600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:140374600-140395600	Weak transcription	A549	lung
27	chr7:140374600-140395800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:140374600-140395800	Weak transcription	Fetal Kidney	kidney
29	chr7:140374800-140383200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:140374800-140383600	Weak transcription	Fetal Heart	heart
31	chr7:140374800-140395800	Weak transcription	Stomach Mucosa	stomach
32	chr7:140375000-140385000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr7:140375200-140378000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:140375400-140378800	Weak transcription	Hela-S3	cervix
35	chr7:140375400-140380200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:140375400-140392200	Strong transcription	Primary T cells from cord blood	blood
37	chr7:140375400-140394600	Weak transcription	Osteobl	bone
38	chr7:140375400-140395400	Strong transcription	Fetal Stomach	stomach
39	chr7:140375400-140395600	Weak transcription	HMEC	breast
40	chr7:140375600-140378000	Weak transcription	Colonic Mucosa	Colon
41	chr7:140375600-140378000	Weak transcription	NHLF	lung
42	chr7:140375600-140378800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:140375600-140378800	Weak transcription	NHEK	skin
44	chr7:140375600-140379000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr7:140375600-140379000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:140375600-140380400	Weak transcription	K562	blood
47	chr7:140375600-140383200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:140375600-140383200	Strong transcription	Fetal Muscle Leg	muscle
49	chr7:140375600-140395600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:140375600-140395600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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