Variant report

Variant	rs2968554
Chromosome Location	chr7:140380434-140380435
allele	A/C
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	chr7:140371081..140374588-chr7:140380343..140383210,3	MCF-7	breast:
3	chr7:140379583..140384830-chr7:140386891..140389682,4	K562	blood:
4	chr7:140378195..140380507-chr7:140394973..140398117,3	K562	blood:
5	chr7:140380302..140383291-chr7:140393450..140394959,2	K562	blood:

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

Extended variants
information (count: 21 )
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]
rs2907951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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]
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: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
rs2968554	ADCK2	cis	Nerve Tibial	GTEx
rs2968554	ADCK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 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	chr7:140373800-140395600	Weak transcription	NH-A	brain
4	chr7:140373800-140395800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:140373800-140396000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:140374000-140395800	Weak transcription	Fetal Lung	lung
7	chr7:140374000-140395800	Weak transcription	Right Atrium	heart
8	chr7:140374200-140395800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:140374200-140396000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:140374200-140396000	Weak transcription	Psoas Muscle	Psoas
11	chr7:140374400-140395600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:140374400-140396200	Weak transcription	Small Intestine	intestine
13	chr7:140374600-140383200	Weak transcription	HUVEC	blood vessel
14	chr7:140374600-140395600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:140374600-140395600	Weak transcription	A549	lung
16	chr7:140374600-140395800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr7:140374600-140395800	Weak transcription	Fetal Kidney	kidney
18	chr7:140374800-140383200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:140374800-140383600	Weak transcription	Fetal Heart	heart
20	chr7:140374800-140395800	Weak transcription	Stomach Mucosa	stomach
21	chr7:140375000-140385000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr7:140375400-140392200	Strong transcription	Primary T cells from cord blood	blood
23	chr7:140375400-140394600	Weak transcription	Osteobl	bone
24	chr7:140375400-140395400	Strong transcription	Fetal Stomach	stomach
25	chr7:140375400-140395600	Weak transcription	HMEC	breast
26	chr7:140375600-140383200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:140375600-140383200	Strong transcription	Fetal Muscle Leg	muscle
28	chr7:140375600-140395600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:140375600-140395600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:140375600-140395800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:140375800-140383200	Strong transcription	Brain Anterior Caudate	brain
32	chr7:140375800-140390200	Strong transcription	Fetal Thymus	thymus
33	chr7:140375800-140395600	Weak transcription	Fetal Brain Male	brain
34	chr7:140375800-140395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:140375800-140395800	Weak transcription	NHDF-Ad	bronchial
36	chr7:140376000-140380600	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:140376000-140393200	Strong transcription	Placenta	Placenta
38	chr7:140376000-140395600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr7:140376000-140395800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr7:140376200-140382400	Strong transcription	Brain Hippocampus Middle	brain
41	chr7:140376200-140393400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:140376400-140390200	Strong transcription	Dnd41	blood
43	chr7:140376600-140390200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr7:140376600-140395800	Weak transcription	GM12878-XiMat	blood
45	chr7:140376800-140395600	Strong transcription	Fetal Intestine Small	intestine
46	chr7:140377200-140382400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:140377200-140382400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr7:140377400-140382400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:140377400-140382400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr7:140377400-140382400	Strong transcription	Gastric	stomach

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