Variant report

Variant	rs73121108
Chromosome Location	chr2:234394837-234394838
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	GATA3	chr2:234394758-234397682	A549	lung:	n/a	chr2:234395229-234395245 chr2:234395234-234395241 chr2:234395227-234395248 chr2:234395234-234395241 chr2:234395234-234395244 chr2:234395234-234395241 chr2:234397643-234397653
2	MAX	chr2:234394664-234397748	A549	lung:	n/a	chr2:234394668-234394681 chr2:234394669-234394679 chr2:234394669-234394679 chr2:234394668-234394681 chr2:234394669-234394680 chr2:234394671-234394680 chr2:234394665-234394684 chr2:234394666-234394681 chr2:234394669-234394680 chr2:234394670-234394680 chr2:234394668-234394683 chr2:234394669-234394678 chr2:234394668-234394681 chr2:234394669-234394680 chr2:234394670-234394679
3	POLR2A	chr2:234394452-234395981	A549	lung:	n/a	n/a
4	TCF12	chr2:234394776-234397500	A549	lung:	n/a	chr2:234395469-234395479 chr2:234394972-234394979

No.	Distal block	Cell Line	Cell type
1	chr2:234393460..234398388-chr2:234612624..234620814,16	MCF-7	breast:
2	chr2:234357885..234360671-chr2:234393955..234395750,2	MCF-7	breast:
3	chr2:234388753..234400184-chr2:234596527..234603213,35	MCF-7	breast:
4	chr2:234394199..234396835-chr2:234450285..234452802,2	MCF-7	breast:
5	chr2:234386983..234399433-chr2:234613282..234621553,23	MCF-7	breast:
6	chr2:234393753..234400835-chr2:234472864..234476478,8	MCF-7	breast:
7	chr2:234389632..234392009-chr2:234393676..234396865,6	MCF-7	breast:
8	chr2:234393680..234401613-chr2:234597738..234605139,18	MCF-7	breast:

Variant related genes	Relation type
USP40	TF binding region
ENSG00000085982	Chromatin interaction
ENSG00000224814	Chromatin interaction
ENSG00000167165	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10171805	1.00[AMR][1000 genomes]
rs10182818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13389374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13390054	1.00[EUR][1000 genomes]
rs13395852	1.00[EUR][1000 genomes]
rs13398912	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13401703	1.00[EUR][1000 genomes]
rs13403667	1.00[EUR][1000 genomes]
rs13406202	1.00[EUR][1000 genomes]
rs28538197	1.00[AMR][1000 genomes]
rs28898571	1.00[EUR][1000 genomes]
rs28898573	1.00[EUR][1000 genomes]
rs28968515	1.00[EUR][1000 genomes]
rs28969703	1.00[EUR][1000 genomes]
rs28969712	1.00[EUR][1000 genomes]
rs28969974	1.00[EUR][1000 genomes]
rs28970005	1.00[EUR][1000 genomes]
rs28970006	1.00[EUR][1000 genomes]
rs28970014	1.00[EUR][1000 genomes]
rs28970015	1.00[EUR][1000 genomes]
rs45498701	1.00[EUR][1000 genomes]
rs45548336	1.00[EUR][1000 genomes]
rs45568235	1.00[EUR][1000 genomes]
rs56094972	1.00[AMR][1000 genomes]
rs58587369	1.00[AFR][1000 genomes]
rs73123128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7594222	1.00[EUR][1000 genomes]
rs9287602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv3214	chr2:234384436-234416949	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:234364000-234411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:234373000-234409800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:234373800-234404400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:234375400-234411200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:234377800-234397200	Weak transcription	Small Intestine	intestine
7	chr2:234378200-234395000	Weak transcription	Right Atrium	heart
8	chr2:234380800-234395000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:234381600-234399600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:234383000-234395000	Strong transcription	NHLF	lung
11	chr2:234383400-234395400	Strong transcription	Brain Hippocampus Middle	brain
12	chr2:234383400-234400200	Strong transcription	Fetal Intestine Small	intestine
13	chr2:234384000-234395200	Strong transcription	Liver	Liver
14	chr2:234384000-234412400	Weak transcription	Fetal Heart	heart
15	chr2:234384200-234395000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:234384400-234395000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:234384400-234395000	Strong transcription	Left Ventricle	heart
18	chr2:234384400-234398200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:234384400-234402200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr2:234384400-234402600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:234384600-234395000	Strong transcription	Brain Cingulate Gyrus	brain
22	chr2:234384600-234408400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr2:234386000-234397600	Weak transcription	Brain Germinal Matrix	brain
24	chr2:234386600-234395000	Strong transcription	HepG2	liver
25	chr2:234386600-234400800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:234386800-234407800	Strong transcription	Fetal Intestine Large	intestine
27	chr2:234387200-234396600	Weak transcription	Psoas Muscle	Psoas
28	chr2:234387400-234402800	Strong transcription	Adipose Nuclei	Adipose
29	chr2:234387400-234466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:234387600-234396400	Weak transcription	Primary B cells from cord blood	blood
31	chr2:234388200-234402000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:234388400-234401800	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr2:234388600-234396600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:234388800-234395000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:234389200-234395400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:234389800-234395400	Strong transcription	Brain Substantia Nigra	brain
37	chr2:234389800-234396800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:234389800-234398200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr2:234390200-234402800	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr2:234390400-234395200	Strong transcription	Dnd41	blood
41	chr2:234390800-234395000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr2:234390800-234395400	Strong transcription	Fetal Muscle Leg	muscle
43	chr2:234390800-234441000	Weak transcription	Fetal Brain Male	brain
44	chr2:234391000-234395000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:234391200-234404400	Strong transcription	Fetal Stomach	stomach
46	chr2:234391400-234402600	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:234391600-234396400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:234391600-234397200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:234391600-234412000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:234391800-234395000	Weak transcription	Ovary	ovary

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