Variant report

Variant	rs41446247
Chromosome Location	chr2:191866171-191866172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191865081..191867006-chr2:191879632..191882386,2	K562	blood:
2	chr2:191865706..191867481-chr2:191884159..191885773,2	MCF-7	breast:
3	chr2:191863027..191868321-chr2:191868362..191873359,8	K562	blood:
4	chr2:191865559..191867436-chr2:191878841..191881311,2	K562	blood:
5	chr2:191862286..191863959-chr2:191865424..191867986,3	K562	blood:
6	chr2:191865196..191868105-chr2:191884722..191886408,2	K562	blood:
7	chr2:191745337..191747085-chr2:191864757..191866442,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115419	Chromatin interaction
ENSG00000115415	Chromatin interaction
ENSG00000231858	Chromatin interaction
ENSG00000235852	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16832940	1.00[EUR][1000 genomes]
rs16833146	1.00[EUR][1000 genomes]
rs3024863	1.00[EUR][1000 genomes]
rs3024881	1.00[EUR][1000 genomes]
rs41363648	1.00[EUR][1000 genomes]
rs41381545	1.00[EUR][1000 genomes]
rs41383548	1.00[EUR][1000 genomes]
rs41390345	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41429347	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41457850	1.00[EUR][1000 genomes]
rs41463952	1.00[EUR][1000 genomes]
rs41508653	1.00[EUR][1000 genomes]
rs45581732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45582434	1.00[EUR][1000 genomes]
rs45625838	1.00[EUR][1000 genomes]
rs56722217	1.00[EUR][1000 genomes]
rs57478729	1.00[EUR][1000 genomes]
rs58224506	1.00[EUR][1000 genomes]
rs58801716	1.00[EUR][1000 genomes]
rs60491063	1.00[EUR][1000 genomes]
rs61276563	1.00[EUR][1000 genomes]
rs6712504	1.00[EUR][1000 genomes]
rs6721631	1.00[EUR][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	nsv584065	chr2:191644537-191875901	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv999391	chr2:191749035-191921931	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv834493	chr2:191811373-191974240	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv998232	chr2:191841497-192020361	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr2:191824200-191877200	Strong transcription	HSMM	muscle
2	chr2:191825400-191874200	Strong transcription	Muscle Satellite Cultured Cells	--
3	chr2:191826400-191875600	Strong transcription	Duodenum Mucosa	Duodenum
4	chr2:191826600-191873000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:191826800-191868800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:191826800-191874600	Strong transcription	NHDF-Ad	bronchial
7	chr2:191827600-191873600	Strong transcription	Brain Hippocampus Middle	brain
8	chr2:191828200-191872000	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:191828800-191867000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:191828800-191875200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:191829000-191868200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:191829200-191876000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:191829200-191878200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:191829400-191868000	Strong transcription	Primary B cells from cord blood	blood
15	chr2:191829400-191870800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:191829400-191875800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:191829600-191875600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:191831000-191873800	Strong transcription	HepG2	liver
19	chr2:191832600-191876200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:191833000-191874200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:191836000-191868400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:191839600-191875600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:191840400-191873200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:191844200-191872400	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:191845400-191870800	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:191845400-191872000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:191845400-191874000	Strong transcription	NHLF	lung
28	chr2:191845400-191875600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr2:191845400-191875800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:191845600-191873000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr2:191846000-191876800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr2:191846800-191868400	Strong transcription	Fetal Thymus	thymus
33	chr2:191846800-191875600	Strong transcription	Fetal Muscle Leg	muscle
34	chr2:191847800-191876800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:191848400-191876600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:191848600-191868600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:191848600-191868800	Strong transcription	Primary T cells from cord blood	blood
38	chr2:191848600-191876000	Strong transcription	Placenta	Placenta
39	chr2:191849800-191874000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:191850400-191874400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:191851200-191866400	Strong transcription	Right Ventricle	heart
42	chr2:191851200-191875600	Weak transcription	Right Atrium	heart
43	chr2:191851600-191866600	Strong transcription	Thymus	Thymus
44	chr2:191851600-191868400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:191851600-191868600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:191852000-191866600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:191852200-191868400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:191852200-191875600	Strong transcription	Liver	Liver
49	chr2:191852400-191868200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:191852600-191868400	Strong transcription	Primary hematopoietic stem cells	blood

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