Variant report

Variant	rs12532456
Chromosome Location	chr7:104738833-104738834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:104738587-104738981	ProgFib	skin:	n/a	n/a
2	POLR2A	chr7:104738772-104738915	Gliobla	brain:	n/a	n/a
3	POLR2A	chr7:104738009-104738893	A549	lung:	n/a	n/a
4	CTCF	chr7:104738815-104738899	GM10248	blood:	n/a	n/a
5	POLR2A	chr7:104738657-104738942	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr7:104738654-104738990	GM12891	blood:	n/a	n/a
7	POLR2A	chr7:104738046-104739050	MCF-7	breast:	n/a	n/a
8	POLR2A	chr7:104738685-104738935	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr7:104738792-104738841	K562	blood:	n/a	n/a
10	POLR2A	chr7:104734140-104742097	K562	blood:	n/a	n/a
11	POLR2A	chr7:104738693-104738880	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr7:104738780-104738930	SAEC	small airway:	n/a	n/a
13	POLR2A	chr7:104738634-104739168	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:104738606..104741478-chr7:104741499..104743858,3	K562	blood:
2	chr7:104736837..104739418-chr7:104744937..104747553,3	K562	blood:
3	chr7:104622467..104625447-chr7:104737969..104740560,2	K562	blood:
4	chr7:104738325..104741167-chr7:104777190..104779930,2	K562	blood:
5	chr7:104653273..104655818-chr7:104737853..104740320,2	K562	blood:
6	chr7:104738367..104742450-chr7:104745588..104750008,6	MCF-7	breast:
7	chr7:104735400..104739100-chr7:104740586..104742968,3	K562	blood:
8	chr7:104733055..104736712-chr7:104736895..104739476,3	K562	blood:

No data

Variant related genes	Relation type
KMT2E	TF binding region
ENSG00000239569	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000272918	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs1013016	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1019040	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10224526	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10231782	0.90[EUR][1000 genomes]
rs10231975	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10241374	0.87[EUR][1000 genomes]
rs10242713	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10244764	0.88[EUR][1000 genomes]
rs10245589	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10245676	0.88[EUR][1000 genomes]
rs10245796	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10249746	0.83[EUR][1000 genomes]
rs10249965	0.88[EUR][1000 genomes]
rs10253962	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10260346	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10261472	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10261573	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10264273	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10268866	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10269027	0.82[EUR][1000 genomes]
rs10274607	0.85[EUR][1000 genomes]
rs10276583	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10279486	0.88[EUR][1000 genomes]
rs10279602	0.87[EUR][1000 genomes]
rs10280009	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10280752	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10808139	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808140	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10953464	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10953466	0.88[EUR][1000 genomes]
rs10953467	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1143	0.94[ASN][1000 genomes]
rs11976329	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11981399	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12171585	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12531424	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12532062	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12534140	0.90[EUR][1000 genomes]
rs12540007	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12667625	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12671368	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12705297	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12705299	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13230660	0.92[EUR][1000 genomes]
rs1859786	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1967301	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2011258	0.84[EUR][1000 genomes]
rs2058711	0.92[EUR][1000 genomes]
rs2214928	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2216107	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2237602	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237604	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2237605	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237606	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2237607	0.81[EUR][1000 genomes]
rs2237608	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2237610	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2240453	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2240454	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2240455	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2240457	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240465	0.89[ASN][1000 genomes]
rs2283016	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2285532	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2299299	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28434158	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28489493	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2891761	0.91[EUR][1000 genomes]
rs3173872	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3213676	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3213741	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34202980	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34558707	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35418021	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35780942	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3735377	0.83[EUR][1000 genomes]
rs3815256	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4730065	0.81[EUR][1000 genomes]
rs4730067	0.84[EUR][1000 genomes]
rs4730068	0.90[EUR][1000 genomes]
rs4730069	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730071	0.81[EUR][1000 genomes]
rs6466043	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6466044	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6466045	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6466046	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67739707	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6944847	0.82[AMR][1000 genomes]
rs6952534	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6972229	0.81[EUR][1000 genomes]
rs740297	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs740298	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs740300	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs757958	0.89[AMR][1000 genomes]
rs7780887	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7783812	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7785197	0.90[EUR][1000 genomes]
rs7787448	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7800233	0.86[EUR][1000 genomes]
rs7805792	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7810119	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811349	0.88[EUR][1000 genomes]
rs875567	0.88[EUR][1000 genomes]
rs875568	0.85[EUR][1000 genomes]
rs916704	0.92[EUR][1000 genomes]
rs960437	0.87[EUR][1000 genomes]
rs9641340	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9641341	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs999895	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104678000-104812200	Strong transcription	Dnd41	blood
3	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr7:104701400-104758800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr7:104702200-104747800	Weak transcription	Stomach Mucosa	stomach
8	chr7:104702800-104758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:104703600-104759000	Strong transcription	Fetal Intestine Large	intestine
10	chr7:104704000-104745200	Weak transcription	Psoas Muscle	Psoas
11	chr7:104706000-104760200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:104707000-104739200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:104709600-104744400	Weak transcription	Right Ventricle	heart
14	chr7:104712400-104758800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:104718200-104750600	Weak transcription	Fetal Brain Male	brain
16	chr7:104720600-104746200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:104720800-104739200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:104721400-104744600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:104721600-104744800	Weak transcription	Spleen	Spleen
20	chr7:104721600-104749400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:104722200-104759400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:104724000-104743200	Weak transcription	Brain Angular Gyrus	brain
23	chr7:104724200-104744400	Weak transcription	Aorta	Aorta
24	chr7:104724200-104748000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:104724800-104743200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:104724800-104744000	Weak transcription	Small Intestine	intestine
27	chr7:104726400-104744600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:104726800-104743800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:104726800-104744800	Weak transcription	Gastric	stomach
30	chr7:104726800-104747800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:104727800-104758200	Strong transcription	Fetal Thymus	thymus
32	chr7:104727800-104759200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:104727800-104759800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:104727800-104760400	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:104728000-104760200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr7:104728200-104758400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:104728200-104758400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr7:104728400-104739000	Strong transcription	GM12878-XiMat	blood
39	chr7:104728400-104756800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:104728400-104758400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:104728400-104758400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:104728600-104739600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:104728600-104756000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr7:104729600-104744800	Weak transcription	NHEK	skin
45	chr7:104731200-104739600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:104732800-104743200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr7:104732800-104744000	Weak transcription	Pancreas	Pancrea
48	chr7:104732800-104744600	Weak transcription	Ovary	ovary
49	chr7:104733600-104743000	Weak transcription	Colonic Mucosa	Colon
50	chr7:104733600-104743600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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