Variant report

Variant	rs4445685
Chromosome Location	chr12:51714570-51714571
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51662271..51665038-chr12:51711816..51714647,2	K562	blood:
2	chr12:51475962..51477532-chr12:51714487..51716389,2	K562	blood:
3	chr12:51712710..51716828-chr12:51719754..51724043,5	K562	blood:
4	chr12:51712171..51715020-chr12:51716929..51719322,2	MCF-7	breast:
5	chr12:51438469..51440828-chr12:51713413..51715859,2	K562	blood:
6	chr12:51712710..51714894-chr12:51720855..51723845,2	K562	blood:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction
ENSG00000110934	Chromatin interaction
ENSG00000170545	Chromatin interaction

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

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

rs_ID	r²[population]
rs11169798	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4761845	0.85[ASN][1000 genomes]
rs4762040	0.85[ASN][1000 genomes]
rs4762041	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4762042	0.88[ASN][1000 genomes]
rs4762045	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv469377	chr12:51690751-51733951	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv558877	chr12:51690751-51733951	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51708800-51716600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:51711200-51716800	Enhancers	Placenta	Placenta
3	chr12:51711800-51715200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr12:51711800-51721800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:51712000-51717600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr12:51712200-51714800	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr12:51712200-51715600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr12:51712200-51716400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr12:51712400-51714600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:51712400-51714600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:51712400-51716200	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr12:51712400-51717400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:51712600-51714600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:51712600-51715200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:51712600-51715600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:51712800-51715000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:51712800-51720200	Weak transcription	HMEC	breast
18	chr12:51713000-51714600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr12:51713200-51714600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:51713200-51714600	Enhancers	Dnd41	blood
21	chr12:51713200-51714800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:51713200-51714800	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:51713200-51714800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:51713200-51714800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:51713200-51715600	Weak transcription	Esophagus	oesophagus
26	chr12:51713200-51715800	Weak transcription	Small Intestine	intestine
27	chr12:51713200-51717000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:51713200-51717200	Weak transcription	Spleen	Spleen
29	chr12:51713200-51720000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:51713400-51714600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:51713400-51714600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr12:51713400-51714600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:51713400-51714600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:51713400-51714800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:51713400-51714800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:51713600-51714600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:51713800-51715000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr12:51713800-51715000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:51713800-51715000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:51713800-51715200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:51713800-51716600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr12:51714000-51714600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr12:51714000-51714600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr12:51714000-51714600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr12:51714000-51714800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr12:51714000-51715000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:51714000-51715000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:51714000-51715000	Enhancers	Fetal Muscle Leg	muscle
49	chr12:51714000-51715200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:51714000-51715400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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