Variant report

Variant	rs41272629
Chromosome Location	chr3:100017928-100017929
allele	A/G
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	FOS	chr3:100017928-100018200	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr3:100017924-100018118	MCF10A-Er-Src	breast:	n/a	chr3:100018048-100018056 chr3:100018025-100018033
3	CEBPB	chr3:100017898-100018149	IMR90	lung:	n/a	chr3:100018024-100018033 chr3:100018022-100018033 chr3:100018000-100018012 chr3:100018022-100018035
4	POLR2A	chr3:100017776-100018126	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100016035..100017940-chr3:100021669..100024345,2	K562	blood:

Variant related genes	Relation type
TBC1D23	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10049208	0.83[EUR][1000 genomes]
rs10222473	0.83[EUR][1000 genomes]
rs13318574	0.83[EUR][1000 genomes]
rs13326259	0.83[EUR][1000 genomes]
rs16842034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17314977	1.00[EUR][1000 genomes]
rs28655373	0.83[EUR][1000 genomes]
rs41272631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41272633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62636640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62636641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6762871	1.00[EUR][1000 genomes]
rs6768684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6781780	1.00[EUR][1000 genomes]
rs6788807	1.00[EUR][1000 genomes]
rs6790187	1.00[EUR][1000 genomes]
rs6794130	1.00[EUR][1000 genomes]
rs6794365	1.00[EUR][1000 genomes]
rs6807137	1.00[EUR][1000 genomes]
rs72936590	0.83[EUR][1000 genomes]
rs73860636	0.83[EUR][1000 genomes]
rs7637142	0.83[EUR][1000 genomes]
rs7652596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9809742	0.83[EUR][1000 genomes]
rs9844356	0.83[EUR][1000 genomes]
rs9855368	0.83[EUR][1000 genomes]
rs9867520	0.83[EUR][1000 genomes]
rs9871870	0.83[EUR][1000 genomes]
rs9872028	0.83[EUR][1000 genomes]
rs9876856	0.83[EUR][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	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1003924	chr3:99933762-100112690	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv869690	chr3:99984442-100054949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99980600-100037200	Weak transcription	Spleen	Spleen
2	chr3:99980600-100053200	Weak transcription	Gastric	stomach
3	chr3:99981200-100030800	Weak transcription	Fetal Heart	heart
4	chr3:99986600-100024800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:99989000-100025000	Weak transcription	Fetal Brain Female	brain
6	chr3:99990600-100030600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:99990800-100021400	Weak transcription	Psoas Muscle	Psoas
8	chr3:99994400-100040800	Weak transcription	Esophagus	oesophagus
9	chr3:99995400-100019000	Weak transcription	Colonic Mucosa	Colon
10	chr3:99996000-100052800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:99996000-100053000	Weak transcription	Small Intestine	intestine
12	chr3:99996400-100025600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:99997800-100031800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr3:99998400-100028000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:99998600-100026400	Strong transcription	HSMM	muscle
16	chr3:99998600-100033800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:99998800-100019800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:99998800-100021800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr3:99998800-100026600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:100002400-100018400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:100005200-100021600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:100006000-100018000	Weak transcription	Ovary	ovary
23	chr3:100006000-100019800	Weak transcription	Hela-S3	cervix
24	chr3:100007000-100018000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:100007000-100045000	Weak transcription	Lung	lung
26	chr3:100007800-100035800	Weak transcription	A549	lung
27	chr3:100008000-100019600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr3:100008200-100022200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:100008400-100022600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr3:100008400-100026800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:100008600-100053000	Weak transcription	Aorta	Aorta
32	chr3:100009000-100025400	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr3:100009200-100045000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr3:100009400-100022600	Weak transcription	HSMMtube	muscle
35	chr3:100009400-100031800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr3:100009600-100024600	Weak transcription	HUVEC	blood vessel
37	chr3:100010600-100022400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:100011000-100021000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:100011200-100018000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr3:100011600-100018600	Weak transcription	Primary B cells from cord blood	blood
41	chr3:100011600-100019000	Weak transcription	Pancreas	Pancrea
42	chr3:100011600-100025600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:100011800-100018000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr3:100011800-100021200	Weak transcription	Thymus	Thymus
45	chr3:100011800-100025200	Weak transcription	Right Ventricle	heart
46	chr3:100011800-100028400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:100012000-100018000	Weak transcription	Brain Germinal Matrix	brain
48	chr3:100012000-100018000	Weak transcription	Fetal Muscle Leg	muscle
49	chr3:100012400-100020000	Weak transcription	Fetal Stomach	stomach
50	chr3:100012400-100021400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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