Variant report

Variant	rs16987976
Chromosome Location	chr22:30135486-30135487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30133945..30136337-chr22:30161656..30163853,2	MCF-7	breast:
2	chr22:30135111..30137455-chr22:30141470..30144208,2	K562	blood:

Variant related genes	Relation type
ENSG00000184076	Chromatin interaction
ENSG00000100319	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16987987	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56995766	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58255360	0.86[AFR][1000 genomes]
rs58538392	0.92[AFR][1000 genomes]
rs58959802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390970	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390974	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390978	0.92[AFR][1000 genomes]
rs73391000	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394821	0.89[AFR][1000 genomes]
rs73394863	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1065072	chr22:30102176-30155245	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30117000-30137200	Weak transcription	HSMM	muscle
2	chr22:30123200-30135800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr22:30123200-30137600	Weak transcription	Osteobl	bone
4	chr22:30123200-30142800	Weak transcription	Brain Substantia Nigra	brain
5	chr22:30123600-30135600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:30123600-30146800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:30123600-30147000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr22:30123800-30136600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr22:30124600-30136600	Weak transcription	Primary B cells from cord blood	blood
10	chr22:30125000-30135600	Weak transcription	Dnd41	blood
11	chr22:30125400-30146200	Weak transcription	NHLF	lung
12	chr22:30126000-30144600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr22:30126600-30145200	Strong transcription	Primary T cells from cord blood	blood
14	chr22:30127600-30140600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr22:30127800-30137200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:30128200-30136200	Weak transcription	Small Intestine	intestine
17	chr22:30128400-30135600	Weak transcription	HepG2	liver
18	chr22:30129000-30139200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr22:30129400-30139000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr22:30129400-30144600	Strong transcription	Liver	Liver
21	chr22:30129800-30138600	Strong transcription	Left Ventricle	heart
22	chr22:30129800-30141000	Strong transcription	Fetal Stomach	stomach
23	chr22:30130000-30135600	Weak transcription	Brain Angular Gyrus	brain
24	chr22:30130000-30141000	Weak transcription	Colon Smooth Muscle	Colon
25	chr22:30130200-30150200	Weak transcription	A549	lung
26	chr22:30130400-30150600	Strong transcription	Fetal Intestine Small	intestine
27	chr22:30130600-30140200	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr22:30130600-30149800	Weak transcription	Psoas Muscle	Psoas
29	chr22:30130800-30135600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr22:30130800-30138000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr22:30130800-30138800	Strong transcription	Spleen	Spleen
32	chr22:30130800-30139200	Weak transcription	NH-A	brain
33	chr22:30131000-30138800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:30131000-30145800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr22:30131200-30139800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr22:30131400-30148600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:30131600-30136400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr22:30131600-30136400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr22:30131600-30137200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr22:30131600-30142200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr22:30131600-30144800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr22:30131600-30145600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr22:30131600-30162000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:30131800-30138800	Strong transcription	Brain Germinal Matrix	brain
45	chr22:30131800-30138800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr22:30131800-30147200	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr22:30132800-30138800	Strong transcription	Fetal Intestine Large	intestine
48	chr22:30133000-30140000	Strong transcription	Fetal Brain Female	brain
49	chr22:30133200-30136800	Strong transcription	Gastric	stomach
50	chr22:30133200-30137600	Strong transcription	Thymus	Thymus

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