Variant report

Variant	rs539995323
Chromosome Location	chr1:46085053-46085054
allele	-/CT
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46077998..46080201-chr1:46083457..46085148,2	K562	blood:
2	chr1:46049177..46050779-chr1:46084845..46087660,2	K562	blood:
3	chr1:46076715..46080031-chr1:46084203..46087065,4	K562	blood:
4	chr1:45965206..45967382-chr1:46084831..46087421,2	K562	blood:
5	chr1:46084077..46086305-chr1:46151131..46152894,2	K562	blood:
6	chr1:45185928..45188614-chr1:46083047..46085498,2	K562	blood:
7	chr1:46049177..46052526-chr1:46084544..46088171,4	K562	blood:
8	chr1:46083627..46085575-chr1:46092823..46094633,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000159596	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000132763	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000236624	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers 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 miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
3	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
4	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
5	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
7	nsv822509	chr1:46084979-46089642	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46052800-46086000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:46052800-46089200	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:46052800-46099400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:46053200-46127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:46053600-46086000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:46055000-46085200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:46055200-46090400	Strong transcription	Dnd41	blood
8	chr1:46066800-46086800	Strong transcription	K562	blood
9	chr1:46067000-46086400	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr1:46067200-46086600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:46067200-46087400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:46067400-46086600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:46068000-46086600	Strong transcription	Placenta	Placenta
14	chr1:46068200-46086600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr1:46068200-46087000	Strong transcription	Fetal Muscle Trunk	muscle
16	chr1:46068200-46087400	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr1:46068200-46087400	Strong transcription	Fetal Thymus	thymus
18	chr1:46070000-46108200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:46071000-46087400	Strong transcription	Fetal Stomach	stomach
20	chr1:46071200-46093000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:46071600-46087200	Strong transcription	Fetal Muscle Leg	muscle
22	chr1:46071600-46105800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:46074600-46087400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr1:46074800-46108200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:46075200-46086400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:46075400-46087400	Strong transcription	Primary hematopoietic stem cells	blood
27	chr1:46075600-46088000	Weak transcription	Fetal Heart	heart
28	chr1:46075600-46088000	Strong transcription	Fetal Intestine Small	intestine
29	chr1:46075800-46087200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:46076200-46094000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:46077800-46085800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:46077800-46086400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:46077800-46086400	Strong transcription	Fetal Intestine Large	intestine
34	chr1:46077800-46086600	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr1:46077800-46088200	Strong transcription	Primary T cells from cord blood	blood
36	chr1:46077800-46090000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:46077800-46090200	Strong transcription	Fetal Brain Female	brain
38	chr1:46077800-46112600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr1:46078000-46085200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:46078000-46085200	Strong transcription	A549	lung
41	chr1:46078000-46087600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr1:46078200-46085200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:46078200-46085400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr1:46078200-46086400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:46078200-46086600	Strong transcription	Liver	Liver
46	chr1:46078200-46086800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:46078200-46090000	Strong transcription	Brain Germinal Matrix	brain
48	chr1:46078200-46101200	Strong transcription	Thymus	Thymus
49	chr1:46078400-46086800	Strong transcription	Brain Cingulate Gyrus	brain
50	chr1:46078400-46087200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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