Variant report

Variant	rs2106627
Chromosome Location	chr7:116841364-116841365
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116841164..116844098-chr7:116844507..116848579,3	MCF-7	breast:
2	chr7:116838446..116841411-chr7:116844852..116847542,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10265828	1.00[EUR][1000 genomes]
rs11980583	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981502	1.00[EUR][1000 genomes]
rs11983151	1.00[EUR][1000 genomes]
rs17139469	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139484	0.88[ASN][1000 genomes]
rs4430033	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730767	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs60356864	1.00[EUR][1000 genomes]
rs60412272	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466601	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6967851	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73470843	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73714631	1.00[EUR][1000 genomes]
rs73714633	1.00[EUR][1000 genomes]
rs73714637	1.00[EUR][1000 genomes]
rs7804397	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv2628908	chr7:116841339-116842832	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:86 , 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	chr7:116812200-116850000	Weak transcription	Hela-S3	cervix
10	chr7:116817600-116849000	Weak transcription	Fetal Lung	lung
11	chr7:116824200-116867200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:116825400-116859600	Weak transcription	Brain Anterior Caudate	brain
13	chr7:116827800-116859000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:116828800-116865400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:116830400-116849800	Weak transcription	Fetal Brain Male	brain
16	chr7:116830600-116853000	Weak transcription	NH-A	brain
17	chr7:116830800-116849800	Weak transcription	Brain Substantia Nigra	brain
18	chr7:116830800-116850200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:116830800-116859400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:116830800-116859600	Weak transcription	Gastric	stomach
21	chr7:116831000-116850200	Weak transcription	Esophagus	oesophagus
22	chr7:116831000-116870800	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:116831000-116870800	Weak transcription	Spleen	Spleen
24	chr7:116831200-116841400	Weak transcription	Brain Germinal Matrix	brain
25	chr7:116831200-116842400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:116831200-116842600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:116831200-116865200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:116831400-116850200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:116831400-116850400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:116831400-116858800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:116831400-116859000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:116831400-116860400	Weak transcription	HepG2	liver
33	chr7:116831400-116861200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:116831600-116842400	Weak transcription	NHEK	skin
35	chr7:116832000-116849600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:116834000-116849800	Weak transcription	HSMMtube	muscle
37	chr7:116834200-116853200	Weak transcription	Osteobl	bone
38	chr7:116834400-116842400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:116834400-116868800	Weak transcription	HSMM	muscle
40	chr7:116834600-116841800	Weak transcription	NHDF-Ad	bronchial
41	chr7:116834600-116850000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:116834600-116850400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:116834600-116853000	Weak transcription	NHLF	lung
44	chr7:116835000-116871400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:116838000-116843200	Weak transcription	Fetal Heart	heart
46	chr7:116838400-116842000	Strong transcription	Fetal Intestine Small	intestine
47	chr7:116838800-116850000	Weak transcription	GM12878-XiMat	blood
48	chr7:116838800-116859600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:116839000-116842200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:116839000-116843400	Weak transcription	Right Ventricle	heart

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