Variant report

Variant	rs17000535
Chromosome Location	chr21:16376289-16376290
allele	A/C
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	chr21:16376233-16376301	MCF10A-Er-Src	breast:	n/a	chr21:16376275-16376286
2	FOS	chr21:16376126-16376425	HUVEC	blood vessel:	n/a	chr21:16376193-16376205 chr21:16376147-16376156 chr21:16376275-16376286
3	ESR1	chr21:16375654-16376369	ECC-1	luminal epithelium:	n/a	chr21:16375939-16375956 chr21:16375940-16375955
4	POLR2A	chr21:16376256-16376321	K562	blood:	n/a	n/a
5	POLR2A	chr21:16375702-16376302	H1-neurons	neurons:	n/a	n/a
6	ESR1	chr21:16375645-16376336	ECC-1	luminal epithelium:	n/a	chr21:16375939-16375956 chr21:16375940-16375955
7	POLR2A	chr21:16375721-16376331	H1-neurons	neurons:	n/a	n/a
8	ESR1	chr21:16375496-16376456	ECC-1	luminal epithelium:	n/a	chr21:16375939-16375956 chr21:16375940-16375955
9	STAT3	chr21:16376239-16376419	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr21:16375554-16376322	MCF-7	breast:	n/a	n/a
11	FOS	chr21:16376230-16376289	MCF10A-Er-Src	breast:	n/a	chr21:16376275-16376286

No.	Distal block	Cell Line	Cell type
1	chr21:16376288..16378441-chr21:16386178..16387873,2	MCF-7	breast:
2	chr21:16375401..16376400-chr21:16581899..16583233,5	MCF-7	breast:
3	chr21:16375433..16376422-chr21:16582244..16583115,4	MCF-7	breast:
4	chr21:16375421..16377648-chr21:16377876..16379822,3	MCF-7	breast:
5	chr21:16375351..16376357-chr21:16571993..16572634,4	MCF-7	breast:
6	chr21:16375585..16376325-chr21:16545085..16545933,2	MCF-7	breast:
7	chr21:16375351..16376289-chr21:16571993..16572634,2	MCF-7	breast:
8	chr21:16375801..16376301-chr21:16816249..16817050,2	MCF-7	breast:
9	chr21:16370323..16372974-chr21:16375206..16377799,2	K562	blood:
10	chr21:16235478..16236355-chr21:16375513..16376401,4	MCF-7	breast:
11	chr21:16375433..16376422-chr21:16582096..16583242,10	MCF-7	breast:
12	chr21:16371773..16374195-chr21:16375368..16377855,2	K562	blood:
13	chr21:16375440..16376325-chr21:16545085..16545968,7	MCF-7	breast:
14	chr21:16375307..16377965-chr21:16378343..16380044,2	K562	blood:

Variant related genes	Relation type
NRIP1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17004415	1.00[AMR][1000 genomes]
rs2822976	1.00[AMR][1000 genomes]
rs2822979	1.00[AMR][1000 genomes]
rs8133565	1.00[AMR][1000 genomes]
rs9978619	1.00[AMR][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	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16340800-16377600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr21:16341200-16388600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr21:16341600-16377000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr21:16358800-16377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr21:16360400-16380200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr21:16360400-16402600	Weak transcription	Placenta	Placenta
7	chr21:16362200-16377600	Weak transcription	Fetal Stomach	stomach
8	chr21:16362200-16385800	Weak transcription	K562	blood
9	chr21:16363400-16383000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr21:16363600-16377600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr21:16363600-16377600	Weak transcription	Thymus	Thymus
12	chr21:16363800-16376800	Weak transcription	Dnd41	blood
13	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:16366000-16379000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr21:16368600-16414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr21:16369000-16377600	Weak transcription	NHEK	skin
17	chr21:16369200-16377800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:16370200-16383600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr21:16370800-16377400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:16372000-16377200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr21:16372200-16379200	Weak transcription	Primary B cells from cord blood	blood
22	chr21:16372600-16376800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr21:16373200-16376800	Enhancers	A549	lung
24	chr21:16373400-16379600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr21:16373600-16377200	Weak transcription	Colon Smooth Muscle	Colon
26	chr21:16373600-16377600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr21:16373600-16377600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr21:16373600-16379000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr21:16373800-16376600	Weak transcription	HMEC	breast
30	chr21:16373800-16376800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr21:16373800-16376800	Weak transcription	NHDF-Ad	bronchial
32	chr21:16373800-16377200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr21:16374000-16376800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr21:16374000-16380000	Genic enhancers	Primary hematopoietic stem cells	blood
35	chr21:16374200-16377600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr21:16374200-16383400	Genic enhancers	HSMM	muscle
37	chr21:16374400-16376800	Enhancers	Fetal Heart	heart
38	chr21:16374400-16377600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr21:16374400-16377800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr21:16374600-16377200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr21:16374600-16381400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr21:16374800-16376800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr21:16374800-16376800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr21:16374800-16377000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr21:16374800-16377600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr21:16374800-16377600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr21:16374800-16379200	Weak transcription	Aorta	Aorta
48	chr21:16374800-16379200	Weak transcription	Esophagus	oesophagus
49	chr21:16374800-16379400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr21:16374800-16394600	Weak transcription	GM12878-XiMat	blood

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