Variant report

Variant	rs7609299
Chromosome Location	chr2:208825585-208825586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208824191..208827889-chr2:208829117..208831257,3	K562	blood:
2	chr2:208824191..208827889-chr2:208829117..208831257,4	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16840140	0.83[YRI][hapmap]
rs16840163	0.83[YRI][hapmap]
rs6723220	0.83[YRI][hapmap]
rs6745049	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208784400-208826800	Weak transcription	Thymus	Thymus
2	chr2:208791000-208826800	Weak transcription	Lung	lung
3	chr2:208796000-208835200	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:208798800-208834200	Weak transcription	Brain Anterior Caudate	brain
5	chr2:208804800-208826800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:208804800-208827000	Weak transcription	Pancreas	Pancrea
7	chr2:208809800-208826800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:208810400-208826400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:208810400-208826800	Weak transcription	Esophagus	oesophagus
10	chr2:208810400-208827000	Weak transcription	Fetal Intestine Large	intestine
11	chr2:208810400-208827200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:208810400-208833600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:208810400-208841000	Weak transcription	Fetal Lung	lung
14	chr2:208810600-208826600	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:208810600-208826800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:208810600-208826800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:208810600-208827200	Weak transcription	Fetal Stomach	stomach
18	chr2:208811000-208827000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:208811200-208826600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:208811200-208835200	Weak transcription	Brain Angular Gyrus	brain
21	chr2:208812200-208827000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:208815400-208826800	Weak transcription	Left Ventricle	heart
23	chr2:208815400-208835400	Weak transcription	Right Ventricle	heart
24	chr2:208815400-208840800	Weak transcription	Ovary	ovary
25	chr2:208816600-208834000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:208816800-208826000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:208817000-208833000	Weak transcription	Psoas Muscle	Psoas
28	chr2:208817200-208826800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:208817200-208834600	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:208817400-208826800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:208817600-208826600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:208818400-208826400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:208818400-208826800	Weak transcription	HepG2	liver
34	chr2:208818800-208826400	Weak transcription	Primary T cells from cord blood	blood
35	chr2:208819200-208834000	Weak transcription	Stomach Mucosa	stomach
36	chr2:208819800-208826400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:208822400-208826400	Weak transcription	Fetal Intestine Small	intestine
38	chr2:208823800-208826200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:208824000-208826600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:208824000-208826600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:208824200-208826000	Enhancers	K562	blood
42	chr2:208824400-208826600	Weak transcription	Primary B cells from cord blood	blood
43	chr2:208824600-208826400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:208824800-208825600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr2:208825200-208826400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:208825200-208841400	Weak transcription	Aorta	Aorta
47	chr2:208825400-208826200	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links