Variant report

Variant	rs2283016
Chromosome Location	chr7:104792339-104792340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104791505..104793331-chr7:104803078..104805814,2	K562	blood:
2	chr7:104791198..104793331-chr7:104802903..104805814,2	K562	blood:
3	chr7:104791026..104793740-chr7:104796147..104798030,2	K562	blood:
4	chr7:104652088..104654974-chr7:104792161..104794010,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228393	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1013016	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1019040	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10231782	0.82[EUR][1000 genomes]
rs10241374	0.81[EUR][1000 genomes]
rs10242713	0.81[EUR][1000 genomes]
rs10245589	0.89[ASN][1000 genomes]
rs10253962	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10260346	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10264273	0.83[EUR][1000 genomes]
rs10268866	0.81[EUR][1000 genomes]
rs10269027	0.95[EUR][1000 genomes]
rs10280470	0.94[EUR][1000 genomes]
rs10280752	0.83[EUR][1000 genomes]
rs10808139	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10808140	0.81[EUR][1000 genomes]
rs10953464	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10953467	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1143	0.93[ASN][1000 genomes]
rs11520996	0.93[EUR][1000 genomes]
rs11976329	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11981399	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12531424	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12532456	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12534140	0.82[EUR][1000 genomes]
rs12537761	0.84[EUR][1000 genomes]
rs12540007	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12667625	0.86[EUR][1000 genomes]
rs12671368	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12705297	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12705299	0.85[ASN][1000 genomes]
rs13237370	0.85[EUR][1000 genomes]
rs13245298	0.84[EUR][1000 genomes]
rs1859786	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1967301	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1978201	0.81[EUR][1000 genomes]
rs2214928	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237602	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2237604	0.84[EUR][1000 genomes]
rs2237605	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237606	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237607	0.96[EUR][1000 genomes]
rs2237608	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237609	0.92[EUR][1000 genomes]
rs2237610	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2240453	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2240454	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2240455	0.83[EUR][1000 genomes]
rs2240457	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2240465	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299299	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28434158	0.83[EUR][1000 genomes]
rs28489493	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3213676	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34202980	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35418021	0.89[ASN][1000 genomes]
rs35780942	0.83[EUR][1000 genomes]
rs3815256	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4730068	0.82[EUR][1000 genomes]
rs4730069	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4730071	0.96[EUR][1000 genomes]
rs62488069	0.85[EUR][1000 genomes]
rs6466043	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6466044	0.87[ASN][1000 genomes]
rs6466045	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6466046	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6944847	0.88[EUR][1000 genomes]
rs6952534	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6971241	0.81[EUR][1000 genomes]
rs740297	0.81[EUR][1000 genomes]
rs740298	0.83[EUR][1000 genomes]
rs757958	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7780887	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7783812	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7785197	0.82[EUR][1000 genomes]
rs7787448	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7805792	0.85[ASN][1000 genomes]
rs7808168	0.82[EUR][1000 genomes]
rs7810119	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9641340	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9641341	0.83[EUR][1000 genomes]
rs999895	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104678000-104812200	Strong transcription	Dnd41	blood
2	chr7:104752800-104807400	Weak transcription	Fetal Brain Male	brain
3	chr7:104753800-104822000	Weak transcription	Small Intestine	intestine
4	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
5	chr7:104756400-104806600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:104761000-104804600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:104777200-104809800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:104777400-104798800	Weak transcription	Stomach Mucosa	stomach
9	chr7:104777800-104805800	Weak transcription	Psoas Muscle	Psoas
10	chr7:104778000-104807800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:104779800-104800400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:104780000-104806200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:104780000-104807400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:104780000-104818800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:104780200-104818800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:104782200-104804400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:104782600-104805600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:104782600-104814000	Weak transcription	Colonic Mucosa	Colon
19	chr7:104782800-104793200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:104782800-104793600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:104782800-104805400	Weak transcription	Gastric	stomach
22	chr7:104782800-104805400	Weak transcription	A549	lung
23	chr7:104782800-104805600	Weak transcription	Right Ventricle	heart
24	chr7:104782800-104845600	Weak transcription	Spleen	Spleen
25	chr7:104783000-104793600	Weak transcription	Brain Substantia Nigra	brain
26	chr7:104783000-104803200	Weak transcription	GM12878-XiMat	blood
27	chr7:104783000-104803800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:104783000-104806200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:104783600-104793600	Weak transcription	Brain Anterior Caudate	brain
30	chr7:104783600-104797000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:104783600-104800400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:104783600-104800600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:104783600-104805400	Weak transcription	Brain Germinal Matrix	brain
34	chr7:104783800-104799600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:104783800-104805400	Weak transcription	Fetal Brain Female	brain
36	chr7:104784000-104806000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:104784200-104798400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:104784200-104799600	Weak transcription	Lung	lung
39	chr7:104784200-104810400	Weak transcription	NHLF	lung
40	chr7:104784400-104793600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:104784400-104793600	Weak transcription	K562	blood
42	chr7:104784400-104794400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr7:104784400-104795800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:104784400-104800400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr7:104784400-104805200	Weak transcription	Placenta	Placenta
46	chr7:104784400-104805200	Weak transcription	HSMMtube	muscle
47	chr7:104784400-104806200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:104784400-104818800	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:104784600-104794400	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:104784600-104804600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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