Variant report

Variant	rs996642
Chromosome Location	chr7:105449345-105449346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:105436538..105438990-chr7:105448430..105450104,2	K562	blood:
2	chr7:105443038..105446248-chr7:105449181..105451715,3	K562	blood:
3	chr7:105449060..105451354-chr7:105453657..105456197,2	K562	blood:
4	chr7:105441425..105445126-chr7:105448801..105451715,4	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs212414	1.00[CHD][hapmap]
rs929406	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs996642	ACTG1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105422000-105452000	Weak transcription	Colonic Mucosa	Colon
2	chr7:105430200-105479200	Weak transcription	Aorta	Aorta
3	chr7:105441200-105457200	Weak transcription	Fetal Lung	lung
4	chr7:105441400-105449800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:105444600-105451200	Weak transcription	HepG2	liver
6	chr7:105445400-105450400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:105446000-105450800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:105446000-105452600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr7:105446200-105451600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:105446400-105450400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:105446400-105451400	Weak transcription	Liver	Liver
12	chr7:105446400-105471200	Weak transcription	Lung	lung
13	chr7:105446600-105450600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:105446600-105451400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr7:105446800-105449800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:105446800-105450800	Enhancers	Primary B cells from peripheral blood	blood
17	chr7:105446800-105450800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:105446800-105456000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:105446800-105457200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:105446800-105470000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:105446800-105470200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:105446800-105471200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:105447000-105449800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr7:105447000-105470000	Weak transcription	Ovary	ovary
25	chr7:105447200-105451000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:105447200-105454200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:105447200-105457000	Weak transcription	Gastric	stomach
28	chr7:105447200-105470200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:105447400-105450800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr7:105447600-105449400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:105447600-105449400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:105447600-105449400	Weak transcription	K562	blood
33	chr7:105447600-105449600	Weak transcription	Osteobl	bone
34	chr7:105447600-105450600	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:105447600-105451000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:105447600-105451600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:105447600-105453200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr7:105447600-105455800	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:105447600-105470000	Weak transcription	NH-A	brain
40	chr7:105447800-105449400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr7:105447800-105449600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:105447800-105449600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:105447800-105449600	Weak transcription	A549	lung
44	chr7:105447800-105449800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:105447800-105449800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:105447800-105450000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:105447800-105450000	Weak transcription	HSMM	muscle
48	chr7:105447800-105451000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:105447800-105451200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:105447800-105457000	Weak transcription	Spleen	Spleen

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