Variant report

Variant	rs4964803
Chromosome Location	chr12:104866893-104866894
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104866750..104869514-chr12:104871657..104874435,3	K562	blood:
2	chr12:104861083..104865275-chr12:104866418..104870159,5	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12578959	1.00[EUR][1000 genomes]
rs12580133	1.00[EUR][1000 genomes]
rs12581080	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs12581557	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17035647	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3751318	1.00[EUR][1000 genomes]
rs3812797	1.00[EUR][1000 genomes]
rs4964796	1.00[EUR][1000 genomes]
rs4964804	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964808	0.93[AMR][1000 genomes]
rs4964810	1.00[EUR][1000 genomes]
rs7136717	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7300417	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7301678	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv868	chr12:104858964-104895572	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1042647	chr12:104861494-104888494	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104853200-104868600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:104853600-104867000	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:104853800-104870600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:104854200-104867600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:104855200-104868200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:104855200-104868600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:104855400-104874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:104855400-104874800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:104856800-104867400	Enhancers	Thymus	Thymus
10	chr12:104857000-104867000	Weak transcription	NH-A	brain
11	chr12:104857000-104868200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:104857000-104873600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:104857200-104869200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:104857600-104869200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:104857800-104867000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:104857800-104867000	Weak transcription	Left Ventricle	heart
17	chr12:104857800-104867000	Weak transcription	HUVEC	blood vessel
18	chr12:104857800-104871800	Weak transcription	Right Atrium	heart
19	chr12:104857800-104873600	Weak transcription	A549	lung
20	chr12:104859200-104867200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:104859200-104879800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:104861800-104867000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr12:104861800-104869200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr12:104862600-104867400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:104863400-104869600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:104863400-104879200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:104863600-104867000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:104863600-104867200	Weak transcription	Fetal Brain Female	brain
29	chr12:104864200-104867800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:104864400-104867800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr12:104864400-104869600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr12:104864600-104868800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr12:104864800-104867000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr12:104865000-104867400	Enhancers	K562	blood
35	chr12:104865200-104867000	Enhancers	Primary B cells from cord blood	blood
36	chr12:104865200-104867200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:104865200-104867800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr12:104865200-104869400	Enhancers	Primary hematopoietic stem cells	blood
39	chr12:104865400-104869400	Enhancers	Fetal Thymus	thymus
40	chr12:104865600-104867000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:104865600-104874600	Weak transcription	HMEC	breast
42	chr12:104865800-104869400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr12:104866000-104869600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr12:104866200-104867000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:104866200-104867600	Enhancers	Fetal Stomach	stomach
46	chr12:104866200-104867600	Transcr. at gene 5' and 3'	Dnd41	blood
47	chr12:104866200-104868200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:104866200-104869200	Enhancers	Primary T cells from cord blood	blood
49	chr12:104866200-104869400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:104866200-104869400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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