Variant report

Variant	rs17139448
Chromosome Location	chr7:116835223-116835224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116832809..116834371-chr7:116834554..116836125,2	MCF-7	breast:
2	chr7:116827597..116829249-chr7:116833009..116835845,2	K562	blood:
3	7:115847372-115857098..7:116834492-116839074	H1-hESC	embryonic stem cell:	embryo
4	chr7:116833755..116835279-chr7:116843331..116844941,2	K562	blood:
5	chr7:116835045..116836833-chr7:116852463..116855168,2	K562	blood:

Variant related genes	Relation type
ENSG00000227532	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10231354	1.00[ASW][hapmap];0.90[MKK][hapmap]
rs12535380	0.87[MKK][hapmap]

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	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv5916	chr7:116825221-116870570	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116785200-116856600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116798000-116850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:116798200-116866600	Weak transcription	HMEC	breast
4	chr7:116798400-116849800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:116805200-116850000	Weak transcription	Psoas Muscle	Psoas
6	chr7:116807600-116857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:116808400-116871800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:116810200-116850000	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:116811600-116838400	Weak transcription	Pancreas	Pancrea
10	chr7:116812200-116850000	Weak transcription	Hela-S3	cervix
11	chr7:116815800-116839000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:116817600-116849000	Weak transcription	Fetal Lung	lung
13	chr7:116824200-116867200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:116825400-116859600	Weak transcription	Brain Anterior Caudate	brain
15	chr7:116827800-116859000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:116828800-116865400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:116829200-116840600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:116829400-116835400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:116829400-116836200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:116830400-116838600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:116830400-116849800	Weak transcription	Fetal Brain Male	brain
22	chr7:116830600-116853000	Weak transcription	NH-A	brain
23	chr7:116830800-116837800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:116830800-116849800	Weak transcription	Brain Substantia Nigra	brain
25	chr7:116830800-116850200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:116830800-116859400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:116830800-116859600	Weak transcription	Gastric	stomach
28	chr7:116831000-116838200	Weak transcription	Aorta	Aorta
29	chr7:116831000-116838400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:116831000-116838400	Weak transcription	Fetal Intestine Small	intestine
31	chr7:116831000-116838400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr7:116831000-116838400	Weak transcription	Lung	lung
33	chr7:116831000-116838400	Weak transcription	Right Ventricle	heart
34	chr7:116831000-116838800	Weak transcription	Small Intestine	intestine
35	chr7:116831000-116850200	Weak transcription	Esophagus	oesophagus
36	chr7:116831000-116870800	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:116831000-116870800	Weak transcription	Spleen	Spleen
38	chr7:116831200-116837200	Weak transcription	Fetal Heart	heart
39	chr7:116831200-116837800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:116831200-116837800	Weak transcription	Brain Angular Gyrus	brain
41	chr7:116831200-116837800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:116831200-116837800	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:116831200-116838400	Weak transcription	Adipose Nuclei	Adipose
44	chr7:116831200-116838400	Weak transcription	Fetal Stomach	stomach
45	chr7:116831200-116839600	Weak transcription	Ovary	ovary
46	chr7:116831200-116841400	Weak transcription	Brain Germinal Matrix	brain
47	chr7:116831200-116842400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:116831200-116842600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:116831200-116865200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr7:116831400-116837600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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