Variant report

Variant	rs10019296
Chromosome Location	chr4:74099302-74099303
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74094714..74099476-chr4:74109744..74111749,4	K562	blood:
2	chr4:74094205..74096174-chr4:74099236..74100932,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10011483	1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs10028486	0.80[YRI][hapmap]
rs2306057	0.83[YRI][hapmap]
rs28506093	0.91[AMR][1000 genomes]
rs28709646	0.83[YRI][hapmap]
rs28898382	0.81[AMR][1000 genomes]
rs7657840	0.81[AMR][1000 genomes]
rs7664144	1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs7679277	0.80[YRI][hapmap]
rs9997697	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv879486	chr4:74031423-74114322	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv1793600	chr4:74046221-74116012	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv879488	chr4:74050725-74099754	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
7	nsv879489	chr4:74050725-74115116	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
8	esv3410570	chr4:74055180-74122498	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74056000-74123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:74059600-74123000	Weak transcription	Esophagus	oesophagus
3	chr4:74078200-74123000	Weak transcription	Lung	lung
4	chr4:74087600-74116400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:74087800-74123400	Weak transcription	Gastric	stomach
6	chr4:74088800-74100200	Weak transcription	Left Ventricle	heart
7	chr4:74088800-74111000	Weak transcription	Colonic Mucosa	Colon
8	chr4:74089000-74100200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:74089000-74121400	Weak transcription	Hela-S3	cervix
10	chr4:74089200-74099400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:74089200-74100000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:74089200-74100200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:74089200-74100200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:74089200-74100200	Weak transcription	Fetal Brain Male	brain
15	chr4:74089200-74100200	Weak transcription	Ovary	ovary
16	chr4:74089200-74100200	Weak transcription	HSMMtube	muscle
17	chr4:74089200-74100200	Weak transcription	NH-A	brain
18	chr4:74089200-74100400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:74089200-74100400	Weak transcription	HMEC	breast
20	chr4:74089200-74108800	Weak transcription	Right Ventricle	heart
21	chr4:74089200-74109400	Weak transcription	Fetal Brain Female	brain
22	chr4:74089200-74111000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:74089200-74111600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:74089200-74117600	Weak transcription	NHDF-Ad	bronchial
25	chr4:74089200-74122000	Weak transcription	Aorta	Aorta
26	chr4:74089400-74099400	Weak transcription	Adipose Nuclei	Adipose
27	chr4:74089400-74100000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:74089400-74100200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:74089400-74100600	Weak transcription	Fetal Kidney	kidney
30	chr4:74089400-74121800	Weak transcription	NHLF	lung
31	chr4:74089600-74099400	Weak transcription	HUVEC	blood vessel
32	chr4:74089600-74099600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:74089600-74100200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:74089600-74111800	Weak transcription	Fetal Heart	heart
35	chr4:74089800-74112000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:74090000-74100200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:74090000-74100200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr4:74090000-74100200	Weak transcription	Spleen	Spleen
39	chr4:74090000-74100200	Weak transcription	NHEK	skin
40	chr4:74090200-74100800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr4:74090800-74100200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:74091000-74102000	Weak transcription	Brain Substantia Nigra	brain
43	chr4:74091000-74111000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr4:74091200-74103000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:74091200-74107800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr4:74091200-74110400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr4:74091400-74100000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr4:74091400-74100000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr4:74091400-74100200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:74091400-74100200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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