Variant report

Variant	rs1135727
Chromosome Location	chr2:234113545-234113546
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	chr2:234112849-234113682	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:234112875-234113588	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:234113191-234113652	HL-60	blood:	n/a	n/a
4	NFATC1	chr2:234113320-234113704	GM12878	blood:	n/a	n/a
5	POU2F2	chr2:234113272-234113634	GM12891	blood:	n/a	n/a
6	BCL3	chr2:234113160-234113569	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:234113203-234113597	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:234112645-234113676	GM18505	blood:	n/a	n/a
9	POLR2A	chr2:234113183-234113617	GM12891	blood:	n/a	n/a
10	MYC	chr2:234113511-234113566	NB4	blood:	n/a	n/a
11	POLR2A	chr2:234113192-234113610	GM12891	blood:	n/a	n/a
12	POLR2A	chr2:234112692-234113681	GM19193	blood:	n/a	n/a
13	POLR2A	chr2:234113162-234113644	GM12891	blood:	n/a	n/a
14	POLR2A	chr2:234113268-234113586	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:234113215-234113675	GM12878	blood:	n/a	n/a
16	STAT5A	chr2:234113293-234113751	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:234113093-234113797	GM12892	blood:	n/a	n/a
18	POLR2A	chr2:234109708-234113789	NB4	blood:	n/a	n/a
19	POLR2A	chr2:234112934-234113609	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:234113338-234113571	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr2:234112553-234113599	GM18951	blood:	n/a	n/a
22	NFATC1	chr2:234113218-234113649	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:234113146-234113658	GM12878	blood:	n/a	n/a
24	MAX	chr2:234113374-234113549	NB4	blood:	n/a	chr2:234113497-234113507
25	POU2F2	chr2:234113227-234113572	GM12891	blood:	n/a	n/a
26	POLR2A	chr2:234112223-234113670	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
RN7SL32P	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]
rs3792117	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234053800-234113800	Strong transcription	Primary T cells from cord blood	blood
2	chr2:234053800-234118000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:234074600-234122000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:234075200-234117000	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:234075400-234113800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:234075400-234115200	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr2:234077200-234117200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:234090200-234113800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:234099800-234116000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:234100400-234121800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:234101000-234116000	Weak transcription	HUVEC	blood vessel
12	chr2:234107200-234115200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:234108400-234116000	Strong transcription	HMEC	breast
14	chr2:234108800-234113600	Strong transcription	Dnd41	blood
15	chr2:234110000-234113600	ZNF genes & repeats	Fetal Stomach	stomach
16	chr2:234110000-234113600	ZNF genes & repeats	Lung	lung
17	chr2:234110000-234113600	ZNF genes & repeats	Thymus	Thymus
18	chr2:234110600-234113600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr2:234111000-234113600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:234111000-234113600	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr2:234111000-234113600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
22	chr2:234111000-234113800	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr2:234111400-234113600	ZNF genes & repeats	Esophagus	oesophagus
24	chr2:234111400-234113600	Strong transcription	HepG2	liver
25	chr2:234111400-234113800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr2:234111600-234113600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:234111600-234117000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:234111600-234117200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:234111800-234117200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:234112000-234113600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
31	chr2:234112000-234113800	Strong transcription	Spleen	Spleen
32	chr2:234112000-234115200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:234112000-234115200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:234112000-234115400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:234112000-234115800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:234112000-234116000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:234112000-234117200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:234112000-234118400	Weak transcription	Gastric	stomach
39	chr2:234112200-234114000	Strong transcription	GM12878-XiMat	blood
40	chr2:234112200-234115200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:234112200-234116000	Weak transcription	Left Ventricle	heart
42	chr2:234112200-234117400	Weak transcription	Brain Anterior Caudate	brain
43	chr2:234112200-234118400	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:234112200-234118600	Weak transcription	Brain Substantia Nigra	brain
45	chr2:234112200-234119400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:234112400-234113800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:234112400-234114000	Strong transcription	Primary B cells from cord blood	blood
48	chr2:234112400-234115400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:234112400-234117600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:234112400-234121400	Strong transcription	Primary B cells from peripheral blood	blood

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