Variant report

Variant	rs7605228
Chromosome Location	chr2:100200909-100200910
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10174396	1.00[EUR][1000 genomes]
rs10177312	1.00[EUR][1000 genomes]
rs10185545	1.00[EUR][1000 genomes]
rs10206307	1.00[EUR][1000 genomes]
rs10460487	1.00[EUR][1000 genomes]
rs10496341	1.00[EUR][1000 genomes]
rs17022813	1.00[EUR][1000 genomes]
rs2163043	1.00[EUR][1000 genomes]
rs28520449	1.00[EUR][1000 genomes]
rs36003621	1.00[EUR][1000 genomes]
rs4369915	1.00[EUR][1000 genomes]
rs6705968	1.00[EUR][1000 genomes]
rs6731353	1.00[EUR][1000 genomes]
rs6742771	1.00[EUR][1000 genomes]
rs6757828	1.00[EUR][1000 genomes]
rs7578030	1.00[EUR][1000 genomes]
rs7604438	1.00[EUR][1000 genomes]

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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100161800-100211200	Weak transcription	Fetal Kidney	kidney
2	chr2:100162800-100219200	Strong transcription	Primary B cells from peripheral blood	blood
3	chr2:100163200-100203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:100164000-100204800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:100167600-100202000	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:100171200-100202600	Weak transcription	Gastric	stomach
7	chr2:100171400-100203800	Weak transcription	Aorta	Aorta
8	chr2:100171400-100203800	Weak transcription	Spleen	Spleen
9	chr2:100172600-100209600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:100173400-100202600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:100177400-100204000	Weak transcription	Fetal Heart	heart
12	chr2:100184200-100206600	Weak transcription	Esophagus	oesophagus
13	chr2:100184400-100211800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:100186800-100214600	Weak transcription	Fetal Intestine Small	intestine
15	chr2:100187800-100211600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:100188200-100210400	Weak transcription	Brain Substantia Nigra	brain
17	chr2:100188400-100205000	Weak transcription	Brain Angular Gyrus	brain
18	chr2:100188400-100205000	Weak transcription	Brain Anterior Caudate	brain
19	chr2:100188400-100206800	Weak transcription	Placenta	Placenta
20	chr2:100189400-100202800	Weak transcription	NH-A	brain
21	chr2:100189600-100202000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:100190400-100205000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:100190400-100218200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:100190800-100204000	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:100191400-100210800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:100191400-100215000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:100191600-100203000	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:100194400-100202800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:100194800-100202400	Weak transcription	Liver	Liver
30	chr2:100194800-100207000	Weak transcription	Left Ventricle	heart
31	chr2:100194800-100210400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:100195000-100201200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:100195200-100201400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:100195400-100201200	Weak transcription	Adipose Nuclei	Adipose
35	chr2:100195400-100202600	Weak transcription	Dnd41	blood
36	chr2:100195400-100202800	Weak transcription	Fetal Brain Male	brain
37	chr2:100195400-100203000	Weak transcription	Fetal Thymus	thymus
38	chr2:100195400-100203400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr2:100195800-100202400	Weak transcription	Fetal Lung	lung
40	chr2:100196800-100201200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:100197000-100203000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:100197600-100207000	Strong transcription	Primary B cells from cord blood	blood
43	chr2:100198400-100214800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:100199200-100202600	Weak transcription	Ovary	ovary
45	chr2:100199400-100201200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:100199400-100201200	Weak transcription	Fetal Brain Female	brain
47	chr2:100199400-100202600	Weak transcription	Brain Germinal Matrix	brain
48	chr2:100199400-100202600	Weak transcription	Thymus	Thymus
49	chr2:100199400-100205000	Weak transcription	Lung	lung
50	chr2:100199400-100209800	Weak transcription	Fetal Stomach	stomach

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