Variant report

Variant	rs12510488
Chromosome Location	chr4:96111647-96111648
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:96110103..96113264-chr4:96113743..96117396,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13132800	0.82[ASN][1000 genomes]
rs3755879	0.85[ASN][1000 genomes]
rs3755880	0.87[ASN][1000 genomes]
rs3775057	0.83[ASN][1000 genomes]
rs3796460	0.89[ASN][1000 genomes]
rs3796461	0.89[ASN][1000 genomes]

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	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96084600-96111800	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:96098000-96127000	Weak transcription	Right Atrium	heart
3	chr4:96100000-96143000	Weak transcription	Fetal Kidney	kidney
4	chr4:96103600-96123000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:96104400-96115000	Weak transcription	Aorta	Aorta
6	chr4:96105600-96111800	Weak transcription	Brain Anterior Caudate	brain
7	chr4:96105800-96111800	Weak transcription	Brain Angular Gyrus	brain
8	chr4:96105800-96123200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:96108200-96111800	Weak transcription	Fetal Stomach	stomach
10	chr4:96108600-96112000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:96108600-96112000	Weak transcription	Brain Germinal Matrix	brain
12	chr4:96108600-96113800	Weak transcription	Fetal Lung	lung
13	chr4:96108800-96111800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:96108800-96111800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:96109200-96112200	Weak transcription	Ovary	ovary
16	chr4:96110000-96112000	Weak transcription	K562	blood
17	chr4:96110200-96111800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr4:96110400-96111800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:96110600-96111800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:96110600-96112600	Weak transcription	Thymus	Thymus
21	chr4:96110600-96113800	Weak transcription	Primary T cells from cord blood	blood
22	chr4:96110600-96113800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr4:96110600-96114000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:96110600-96114000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr4:96110600-96114400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:96110600-96133800	Weak transcription	Gastric	stomach
27	chr4:96110600-96134000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:96110800-96111800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:96111400-96112800	Enhancers	Fetal Thymus	thymus
30	chr4:96111600-96111800	Enhancers	Fetal Brain Male	brain
31	chr4:96111600-96112000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:96111600-96112200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr4:96111600-96112600	Enhancers	Colon Smooth Muscle	Colon
34	chr4:96111600-96112800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr4:96111600-96113200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:96111600-96113400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:96111600-96116200	Enhancers	Brain Substantia Nigra	brain
38	chr4:96111600-96116800	Enhancers	Brain Hippocampus Middle	brain

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