Variant report

Variant	rs115813748
Chromosome Location	chr1:226612790-226612791
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226595744..226596324-chr1:226612113..226613097,2	K562	blood:
2	chr1:226612258..226612876-chr1:226796174..226796960,2	K562	blood:
3	chr1:226611970..226613533-chr1:226620881..226623391,2	K562	blood:
4	chr1:226612137..226612857-chr1:226813505..226814375,2	K562	blood:
5	chr1:226612138..226612852-chr1:226796151..226796974,3	MCF-7	breast:
6	chr1:226612226..226612932-chr1:226755914..226756415,2	MCF-7	breast:
7	chr1:226612018..226612921-chr1:226737871..226738803,5	MCF-7	breast:
8	chr1:226607208..226609606-chr1:226610785..226615218,4	K562	blood:
9	chr1:226612095..226612846-chr1:226821698..226822342,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143799	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832781	chr1:226570901-226750697	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv3321277	chr1:226612603-226612970	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3321278	chr1:226612623-226612923	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3321279	chr1:226612674-226612900	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3321280	chr1:226612688-226612898	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226596200-226622600	Weak transcription	Right Atrium	heart
2	chr1:226602800-226616200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:226606000-226616200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:226606200-226616000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:226607400-226614200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:226608400-226616200	Weak transcription	Fetal Brain Female	brain
7	chr1:226608800-226613200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:226611800-226612800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:226612000-226612800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:226612000-226612800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:226612000-226612800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:226612000-226612800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:226612000-226612800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr1:226612000-226612800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:226612000-226612800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:226612000-226612800	Enhancers	Fetal Brain Male	brain
17	chr1:226612000-226612800	Enhancers	Fetal Lung	lung
18	chr1:226612000-226613000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:226612000-226613000	Bivalent Enhancer	Fetal Thymus	thymus
20	chr1:226612000-226613200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:226612000-226616000	Enhancers	Dnd41	blood
22	chr1:226612200-226612800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:226612200-226612800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:226612200-226612800	Enhancers	Fetal Heart	heart
25	chr1:226612200-226612800	Active TSS	Fetal Kidney	kidney
26	chr1:226612200-226612800	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr1:226612200-226612800	Enhancers	GM12878-XiMat	blood
28	chr1:226612200-226613000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr1:226612200-226613200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:226612200-226613200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:226612400-226612800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:226612400-226612800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:226612400-226612800	Enhancers	Brain Angular Gyrus	brain
34	chr1:226612400-226612800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:226612400-226612800	Enhancers	Ovary	ovary
36	chr1:226612400-226612800	Enhancers	Spleen	Spleen
37	chr1:226612400-226613000	Enhancers	Primary B cells from peripheral blood	blood
38	chr1:226612400-226613000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr1:226612400-226613000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:226612400-226613000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:226612400-226613000	Enhancers	Brain Cingulate Gyrus	brain
42	chr1:226612400-226613000	Enhancers	Brain Hippocampus Middle	brain
43	chr1:226612400-226613000	Enhancers	Placenta	Placenta
44	chr1:226612400-226613200	Enhancers	Primary B cells from cord blood	blood
45	chr1:226612400-226613200	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr1:226612400-226613200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr1:226612400-226613200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:226612400-226613200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:226612400-226613200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:226612400-226613200	Enhancers	Colon Smooth Muscle	Colon

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