Variant report

Variant	rs3792117
Chromosome Location	chr2:234115337-234115338
allele	C/T
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	chr2:234115276-234115434	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:234115158-234115612	GM12892	blood:	n/a	n/a
3	POLR2A	chr2:234115112-234119661	NB4	blood:	n/a	n/a
4	POLR2A	chr2:234115243-234115411	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234107430..234110250-chr2:234115314..234117709,2	MCF-7	breast:
2	chr2:234100503..234103423-chr2:234114433..234117348,2	K562	blood:

Variant related genes	Relation type
ATG16L1	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1135727	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527354	chr2:234093805-234118882	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv584698	chr2:234107070-234118583	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234053800-234118000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr2:234074600-234122000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:234075200-234117000	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:234077200-234117200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:234099800-234116000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:234100400-234121800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:234101000-234116000	Weak transcription	HUVEC	blood vessel
8	chr2:234108400-234116000	Strong transcription	HMEC	breast
9	chr2:234111600-234117000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:234111600-234117200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:234111800-234117200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:234112000-234115400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:234112000-234115800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:234112000-234116000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:234112000-234117200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:234112000-234118400	Weak transcription	Gastric	stomach
17	chr2:234112200-234116000	Weak transcription	Left Ventricle	heart
18	chr2:234112200-234117400	Weak transcription	Brain Anterior Caudate	brain
19	chr2:234112200-234118400	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:234112200-234118600	Weak transcription	Brain Substantia Nigra	brain
21	chr2:234112200-234119400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:234112400-234115400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:234112400-234117600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:234112400-234121400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr2:234112600-234117400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:234112600-234117800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:234112600-234121800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:234112600-234121800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr2:234112800-234115400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:234113000-234116800	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:234113400-234115400	Weak transcription	Colonic Mucosa	Colon
32	chr2:234113600-234115400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:234113600-234116200	Weak transcription	Right Ventricle	heart
34	chr2:234113600-234116400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:234113600-234116400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:234113600-234116600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:234113600-234116600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:234113600-234116800	Weak transcription	Fetal Stomach	stomach
39	chr2:234113600-234116800	Weak transcription	Dnd41	blood
40	chr2:234113600-234117000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:234113600-234117000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:234113600-234117000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:234113600-234117400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:234113600-234118400	Weak transcription	Esophagus	oesophagus
45	chr2:234113600-234118400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:234113600-234119400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:234113600-234121600	Weak transcription	Placenta	Placenta
48	chr2:234113800-234115400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:234113800-234116200	Weak transcription	Fetal Intestine Small	intestine
50	chr2:234113800-234117600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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