Variant report

Variant	rs12078663
Chromosome Location	chr1:226846227-226846228
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226845713..226848053-chr1:226861534..226863406,2	K562	blood:
2	chr1:226844931..226846433-chr1:226894353..226896487,2	MCF-7	breast:
3	chr1:226838115..226840553-chr1:226843836..226846958,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228382	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12076039	1.00[YRI][hapmap]
rs4653463	0.93[YRI][hapmap]
rs4653765	0.87[MKK][hapmap];1.00[YRI][hapmap]
rs6662364	1.00[YRI][hapmap]
rs73100928	0.81[AFR][1000 genomes]
rs9651015	1.00[YRI][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	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv873235	chr1:226819073-226851963	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226836400-226847200	Weak transcription	Ovary	ovary
2	chr1:226836800-226856200	Enhancers	Left Ventricle	heart
3	chr1:226837000-226849800	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr1:226837400-226848600	Enhancers	Right Atrium	heart
5	chr1:226837400-226856200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:226837400-226856600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr1:226837400-226856600	Enhancers	Brain Substantia Nigra	brain
8	chr1:226838800-226848200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:226839200-226846800	Enhancers	Spleen	Spleen
10	chr1:226839400-226856200	Enhancers	Fetal Muscle Leg	muscle
11	chr1:226840600-226851800	Enhancers	Adipose Nuclei	Adipose
12	chr1:226840600-226852600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:226840600-226852800	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:226841000-226847000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:226841000-226847000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:226841000-226847200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:226841200-226846400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:226841400-226846400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:226841400-226846400	Enhancers	Fetal Intestine Large	intestine
20	chr1:226841400-226847200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:226841800-226850200	Enhancers	Psoas Muscle	Psoas
22	chr1:226841800-226856200	Enhancers	Brain Angular Gyrus	brain
23	chr1:226841800-226860600	Enhancers	Brain Cingulate Gyrus	brain
24	chr1:226842000-226848800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr1:226842200-226849200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:226842200-226850600	Enhancers	Pancreas	Pancrea
27	chr1:226842200-226852400	Enhancers	Esophagus	oesophagus
28	chr1:226842400-226846400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:226842400-226846600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:226842600-226846400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr1:226842800-226848000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr1:226843200-226850200	Genic enhancers	Fetal Thymus	thymus
33	chr1:226843400-226848800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:226843400-226849800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:226843400-226850400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:226843400-226850400	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr1:226843600-226846400	Enhancers	Small Intestine	intestine
38	chr1:226843600-226847200	Enhancers	Stomach Mucosa	stomach
39	chr1:226843600-226847400	Weak transcription	Liver	Liver
40	chr1:226843600-226848200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:226843600-226848400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:226843600-226849000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:226843600-226849600	Genic enhancers	Primary B cells from cord blood	blood
44	chr1:226843800-226846800	Enhancers	HMEC	breast
45	chr1:226843800-226854400	Enhancers	Brain Hippocampus Middle	brain
46	chr1:226844000-226846800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:226844200-226846400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:226844200-226850400	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr1:226844400-226847200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:226844400-226850600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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