Variant report

Variant	rs374324466
Chromosome Location	chr3:49811560-49811561
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:49811343-49811653	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49790800..49792535-chr3:49809148..49811974,2	K562	blood:

Variant related genes	Relation type
ENSG00000244730	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv237797	chr3:49811452-49817742	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv237675	chr3:49811454-49817742	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49775600-49817000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr3:49775800-49823000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:49776400-49812000	Weak transcription	HSMM	muscle
4	chr3:49776400-49812200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:49776400-49812600	Weak transcription	Gastric	stomach
6	chr3:49776400-49818000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:49776400-49818000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:49776400-49818200	Weak transcription	Fetal Kidney	kidney
9	chr3:49776600-49812000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:49782600-49814000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:49785600-49822400	Weak transcription	HSMMtube	muscle
12	chr3:49785600-49822600	Weak transcription	Esophagus	oesophagus
13	chr3:49785800-49812400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:49785800-49818000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr3:49786000-49812400	Weak transcription	NHEK	skin
16	chr3:49786000-49812600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:49786000-49812800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:49786000-49814400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:49786000-49823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:49786200-49812000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:49786200-49812600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:49786200-49812600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:49786200-49822400	Weak transcription	HMEC	breast
24	chr3:49786400-49817800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:49786600-49812800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:49786600-49817800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:49787800-49812600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr3:49787800-49812600	Weak transcription	Thymus	Thymus
29	chr3:49791400-49812000	Weak transcription	Colon Smooth Muscle	Colon
30	chr3:49791800-49812400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:49792400-49812600	Weak transcription	Pancreas	Pancrea
32	chr3:49793800-49817600	Weak transcription	Spleen	Spleen
33	chr3:49795000-49818000	Weak transcription	Psoas Muscle	Psoas
34	chr3:49795000-49819000	Weak transcription	Right Ventricle	heart
35	chr3:49795000-49821000	Weak transcription	K562	blood
36	chr3:49795400-49822400	Weak transcription	Stomach Mucosa	stomach
37	chr3:49797200-49812600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:49797400-49812000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr3:49802400-49818000	Weak transcription	Right Atrium	heart
40	chr3:49804000-49812800	Weak transcription	Liver	Liver
41	chr3:49804000-49822600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr3:49804200-49816000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr3:49805400-49812600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:49806200-49818800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:49806600-49819000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:49807400-49813000	Weak transcription	Primary B cells from cord blood	blood
47	chr3:49807600-49812000	Weak transcription	Brain Hippocampus Middle	brain
48	chr3:49807600-49812600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:49807600-49812600	Weak transcription	HUVEC	blood vessel
50	chr3:49807600-49817800	Weak transcription	Small Intestine	intestine

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