Variant report

Variant	rs72997735
Chromosome Location	chr4:166251443-166251444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:166248835..166250547-chr4:166251406..166253034,2	MCF-7	breast:
2	chr4:166251079..166252856-chr4:166258884..166260563,2	MCF-7	breast:
3	chr4:166249129..166252121-chr4:166265324..166266921,2	K562	blood:

Variant related genes	Relation type
ENSG00000052802	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10002711	1.00[EUR][1000 genomes]
rs10003171	1.00[EUR][1000 genomes]
rs10024839	1.00[EUR][1000 genomes]
rs10024849	1.00[EUR][1000 genomes]
rs10024953	1.00[EUR][1000 genomes]
rs10025186	1.00[EUR][1000 genomes]
rs10517835	1.00[EUR][1000 genomes]
rs1059209	1.00[EUR][1000 genomes]
rs1059210	1.00[EUR][1000 genomes]
rs1059212	1.00[EUR][1000 genomes]
rs1059214	1.00[EUR][1000 genomes]
rs1136537	1.00[EUR][1000 genomes]
rs13918	1.00[EUR][1000 genomes]
rs17046253	1.00[EUR][1000 genomes]
rs17046259	1.00[EUR][1000 genomes]
rs17046508	1.00[EUR][1000 genomes]
rs17435706	1.00[EUR][1000 genomes]
rs2241816	1.00[EUR][1000 genomes]
rs28469126	1.00[EUR][1000 genomes]
rs28491691	1.00[EUR][1000 genomes]
rs28649956	1.00[EUR][1000 genomes]
rs4582114	1.00[AMR][1000 genomes]
rs6536905	1.00[EUR][1000 genomes]
rs6849394	1.00[EUR][1000 genomes]
rs6852034	1.00[EUR][1000 genomes]
rs72997722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72997732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7664542	1.00[EUR][1000 genomes]
rs7674685	1.00[EUR][1000 genomes]
rs9308102	1.00[EUR][1000 genomes]
rs9308103	1.00[EUR][1000 genomes]
rs9985842	1.00[EUR][1000 genomes]
rs9997634	1.00[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	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv289926	chr4:166250805-166251867	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166247000-166251600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:166247600-166251600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr4:166247600-166251800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:166247800-166251600	Active TSS	Fetal Intestine Large	intestine
5	chr4:166247800-166251800	Active TSS	HSMMtube	muscle
6	chr4:166247800-166253600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:166248000-166252000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:166248000-166253200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:166248000-166253600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:166249400-166251800	Flanking Active TSS	HUVEC	blood vessel
11	chr4:166249600-166251600	Active TSS	Fetal Brain Male	brain
12	chr4:166249600-166254000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:166249600-166254000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr4:166249600-166266600	Weak transcription	Left Ventricle	heart
15	chr4:166249800-166251600	Enhancers	Primary T cells from cord blood	blood
16	chr4:166249800-166251600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:166249800-166251800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr4:166249800-166252200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:166249800-166255000	Weak transcription	Placenta	Placenta
20	chr4:166249800-166262400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:166249800-166262600	Weak transcription	Thymus	Thymus
22	chr4:166250000-166252000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr4:166250000-166253600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr4:166250000-166254600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:166250000-166264600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:166250200-166251600	Enhancers	Stomach Mucosa	stomach
27	chr4:166250200-166251800	Weak transcription	Gastric	stomach
28	chr4:166250200-166251800	Weak transcription	Lung	lung
29	chr4:166250200-166254000	Enhancers	Fetal Lung	lung
30	chr4:166250200-166254000	Transcr. at gene 5' and 3'	K562	blood
31	chr4:166250200-166259800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:166250200-166260400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:166250200-166260800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr4:166250200-166262600	Weak transcription	Spleen	Spleen
35	chr4:166250200-166262800	Weak transcription	Right Ventricle	heart
36	chr4:166250200-166263800	Weak transcription	Colon Smooth Muscle	Colon
37	chr4:166250200-166265000	Weak transcription	Psoas Muscle	Psoas
38	chr4:166250200-166265200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:166250400-166251600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:166250400-166251600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:166250400-166251800	Enhancers	Brain Substantia Nigra	brain
42	chr4:166250400-166252400	Enhancers	Ovary	ovary
43	chr4:166250400-166253000	Weak transcription	Right Atrium	heart
44	chr4:166250400-166254000	Transcr. at gene 5' and 3'	Dnd41	blood
45	chr4:166250400-166255000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr4:166250400-166255000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr4:166250400-166255200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:166250400-166255400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr4:166250400-166255800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:166250400-166256000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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