Variant report

Variant	rs16986970
Chromosome Location	chr22:29414170-29414171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29411681..29414398-chr22:29425375..29427146,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KREMEN1-1	chr22:29414152-29414608	ENSG00000235786.1

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16986964	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16987068	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56752813	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57111962	1.00[AMR][1000 genomes]
rs57724605	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59264876	1.00[AMR][1000 genomes]
rs60213855	1.00[AMR][1000 genomes]
rs6519768	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881171	1.00[AMR][1000 genomes]
rs73881179	1.00[AMR][1000 genomes]
rs73881184	1.00[AMR][1000 genomes]
rs73881191	1.00[AMR][1000 genomes]
rs73881193	1.00[AMR][1000 genomes]
rs73882412	1.00[AMR][1000 genomes]
rs73882417	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882419	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882420	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882421	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882423	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882432	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882446	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29400600-29425400	Weak transcription	NHEK	skin
2	chr22:29401400-29414800	Weak transcription	Esophagus	oesophagus
3	chr22:29401400-29419200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr22:29401400-29425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr22:29401800-29426200	Weak transcription	Colon Smooth Muscle	Colon
6	chr22:29405200-29418000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr22:29405400-29424600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:29408200-29419400	Weak transcription	Fetal Stomach	stomach
9	chr22:29408200-29419400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr22:29408200-29422600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr22:29408600-29419400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:29408600-29419400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr22:29409200-29414800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:29409400-29414800	Weak transcription	Aorta	Aorta
15	chr22:29410400-29416000	Enhancers	Liver	Liver
16	chr22:29410400-29419200	Weak transcription	Right Atrium	heart
17	chr22:29410400-29424800	Weak transcription	Psoas Muscle	Psoas
18	chr22:29410800-29418000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr22:29411000-29414800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:29411000-29414800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:29411000-29417800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr22:29411000-29418400	Weak transcription	Right Ventricle	heart
23	chr22:29411000-29418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr22:29411000-29419200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:29411000-29419400	Weak transcription	Left Ventricle	heart
26	chr22:29411000-29422200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr22:29411600-29414800	Enhancers	Fetal Intestine Small	intestine
28	chr22:29412000-29414400	Enhancers	Fetal Kidney	kidney
29	chr22:29412000-29415000	Enhancers	Fetal Intestine Large	intestine
30	chr22:29412400-29419400	Weak transcription	K562	blood
31	chr22:29412400-29424200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr22:29412600-29414400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:29412600-29414400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr22:29412600-29415800	Genic enhancers	HepG2	liver
35	chr22:29412600-29418200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr22:29412600-29418200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr22:29412800-29414200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr22:29412800-29418200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr22:29412800-29419400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr22:29413000-29418000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr22:29413600-29415400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr22:29413600-29417800	Weak transcription	A549	lung
43	chr22:29413600-29419400	Weak transcription	Stomach Mucosa	stomach
44	chr22:29413800-29414200	Enhancers	Fetal Lung	lung
45	chr22:29413800-29414600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr22:29413800-29415800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:29413800-29416400	Weak transcription	Pancreas	Pancrea
48	chr22:29414000-29417800	Weak transcription	Duodenum Mucosa	Duodenum

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