Variant report

Variant	rs387999
Chromosome Location	chr12:57414389-57414390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57398824..57401000-chr12:57412790..57415215,2	MCF-7	breast:
2	chr12:57414283..57415785-chr12:57420233..57422330,2	K562	blood:
3	chr12:57412603..57414903-chr12:57480761..57483298,2	MCF-7	breast:
4	chr12:57414048..57415880-chr12:57419393..57421733,3	K562	blood:

Variant related genes	Relation type
ENSG00000166860	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000166881	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11172102	1.00[LWK][hapmap]
rs11612037	1.00[LWK][hapmap]

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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57410200-57418000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:57410200-57420800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:57410600-57420600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:57412000-57416800	Weak transcription	Fetal Intestine Small	intestine
5	chr12:57412000-57419800	Weak transcription	Fetal Intestine Large	intestine
6	chr12:57412200-57415400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:57412400-57416000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:57412600-57415200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:57412600-57415200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:57412600-57415400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:57412600-57416000	Enhancers	Primary T cells from cord blood	blood
12	chr12:57412600-57420400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:57413000-57415400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr12:57413000-57416000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:57413200-57414800	Enhancers	Primary B cells from cord blood	blood
16	chr12:57413200-57416000	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:57413200-57420400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:57413400-57414800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr12:57413400-57416800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:57413400-57425000	Weak transcription	Spleen	Spleen
21	chr12:57413600-57414800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr12:57413800-57414400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:57413800-57414600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr12:57413800-57414800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:57413800-57415200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:57413800-57415200	Enhancers	Fetal Thymus	thymus
27	chr12:57414000-57414400	Enhancers	NHEK	skin
28	chr12:57414000-57414800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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