Variant report

Variant	rs698941
Chromosome Location	chr1:95055219-95055220
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	chr1:95054539..95057690-chr1:95058025..95060713,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1098718	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1104365	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1146490	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1146493	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1146495	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1146502	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587053	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1245216	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111571	1.00[CHD][hapmap]
rs17410643	1.00[LWK][hapmap]
rs2022033	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066285	1.00[ASN][1000 genomes]
rs2066286	1.00[ASN][1000 genomes]
rs4847205	1.00[ASW][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.80[TSI][hapmap];1.00[ASN][1000 genomes]
rs6683135	1.00[ASN][1000 genomes]
rs72729550	1.00[ASN][1000 genomes]
rs72729555	1.00[ASN][1000 genomes]
rs72729561	1.00[ASN][1000 genomes]
rs7519356	1.00[ASN][1000 genomes]
rs841680	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs841702	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs841703	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv871279	chr1:95028981-95083836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1804937	chr1:95051930-95081587	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95046000-95065400	Weak transcription	Fetal Intestine Large	intestine
2	chr1:95047000-95055800	Weak transcription	NHLF	lung
3	chr1:95052400-95056000	Weak transcription	HSMM	muscle
4	chr1:95053000-95055400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:95053600-95055800	Weak transcription	Fetal Lung	lung
6	chr1:95053800-95057800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:95055000-95056000	Enhancers	Brain Hippocampus Middle	brain
8	chr1:95055000-95056200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:95055000-95056200	Enhancers	Brain Substantia Nigra	brain
10	chr1:95055000-95056600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:95055000-95056600	Enhancers	Fetal Stomach	stomach
12	chr1:95055000-95059200	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:95055000-95061400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:95055000-95061600	Enhancers	Brain Anterior Caudate	brain
15	chr1:95055000-95062000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:95055200-95055400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:95055200-95055400	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr1:95055200-95055600	Bivalent Enhancer	HepG2	liver
19	chr1:95055200-95055800	Enhancers	Brain Germinal Matrix	brain
20	chr1:95055200-95056000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:95055200-95056200	Enhancers	Right Atrium	heart
22	chr1:95055200-95057600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:95055200-95057600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:95055200-95059200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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