Variant report

Variant	rs325435
Chromosome Location	chr12:32519947-32519948
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	chr12:32519761..32521890-chr12:32532145..32533928,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1055875	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs191257	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325433	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325434	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34447944	0.85[EUR][1000 genomes]
rs35919769	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4385975	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs56141196	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56144247	0.85[EUR][1000 genomes]
rs56149636	1.00[ASN][1000 genomes]
rs56253344	1.00[ASN][1000 genomes]
rs56262267	1.00[ASN][1000 genomes]
rs56386122	0.88[EUR][1000 genomes]
rs73295804	0.83[EUR][1000 genomes]
rs73295807	0.83[EUR][1000 genomes]
rs73295812	0.83[EUR][1000 genomes]
rs73295822	0.83[EUR][1000 genomes]
rs7970001	0.88[CEU][hapmap]
rs7970425	0.87[CEU][hapmap]
rs7970657	0.88[CEU][hapmap];0.86[GIH][hapmap];0.93[TSI][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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32475600-32532400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:32480600-32524800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:32485800-32520000	Weak transcription	Fetal Kidney	kidney
4	chr12:32492200-32522000	Weak transcription	Fetal Stomach	stomach
5	chr12:32492200-32523800	Weak transcription	Primary T cells from cord blood	blood
6	chr12:32492200-32523800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:32492200-32527400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:32492200-32530400	Weak transcription	Thymus	Thymus
9	chr12:32492400-32522000	Weak transcription	Fetal Brain Female	brain
10	chr12:32492400-32524200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:32492400-32527200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:32492400-32532000	Weak transcription	Brain Angular Gyrus	brain
13	chr12:32492600-32523200	Weak transcription	Primary B cells from cord blood	blood
14	chr12:32493000-32522000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:32493200-32521200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:32494200-32533800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:32497400-32523800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:32497600-32520600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:32502200-32523800	Weak transcription	Dnd41	blood
20	chr12:32502400-32524000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:32508600-32527000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:32511000-32520600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:32512400-32521800	Weak transcription	Ovary	ovary
24	chr12:32514800-32520400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:32515000-32520600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:32515000-32524000	Weak transcription	Spleen	Spleen
27	chr12:32515000-32526400	Weak transcription	Aorta	Aorta
28	chr12:32516400-32520600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:32518400-32520200	Enhancers	A549	lung
30	chr12:32518600-32520200	Enhancers	Duodenum Mucosa	Duodenum
31	chr12:32518600-32520600	Enhancers	Liver	Liver
32	chr12:32518600-32520800	Enhancers	Fetal Intestine Large	intestine
33	chr12:32518800-32531800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:32519000-32520000	Weak transcription	Fetal Heart	heart
35	chr12:32519000-32520200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:32519000-32520400	Weak transcription	Brain Germinal Matrix	brain
37	chr12:32519000-32520400	Weak transcription	HSMMtube	muscle
38	chr12:32519000-32520400	Weak transcription	Osteobl	bone
39	chr12:32519000-32520600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:32519000-32521800	Weak transcription	NH-A	brain
41	chr12:32519000-32522600	Weak transcription	NHEK	skin
42	chr12:32519000-32523200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:32519000-32524000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:32519000-32524000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:32519000-32530000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr12:32519000-32530000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:32519000-32530000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:32519000-32530000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:32519000-32530200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:32519000-32530400	Weak transcription	Muscle Satellite Cultured Cells	--

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