Variant report

Variant	rs6658017
Chromosome Location	chr1:93642323-93642324
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	WRNIP1	chr1:93642229-93642486	GM12878	blood:	n/a	n/a
2	RCOR1	chr1:93642285-93642438	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:93626050..93628940-chr1:93640421..93643391,2	K562	blood:
2	chr1:93542817..93546420-chr1:93641583..93645468,3	MCF-7	breast:
3	chr1:93638069..93640973-chr1:93641703..93643320,2	K562	blood:

Variant related genes	Relation type
CCDC18	TF binding region
ENSG00000143033	Chromatin interaction
ENSG00000117500	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10874767	1.00[CHB][hapmap]
rs1535700	1.00[CHB][hapmap]
rs1570528	1.00[CHB][hapmap]
rs3754187	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767965	1.00[EUR][1000 genomes]
rs485622	1.00[ASN][1000 genomes]
rs488646	0.84[ASN][1000 genomes]
rs504810	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs506556	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs519723	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs605759	1.00[ASN][1000 genomes]
rs626714	1.00[CHB][hapmap]
rs6604040	1.00[EUR][1000 genomes]
rs6667701	1.00[CHB][hapmap]
rs6667727	1.00[EUR][1000 genomes]
rs6670332	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690225	1.00[EUR][1000 genomes]
rs693872	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7514162	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs7527424	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527559	1.00[EUR][1000 genomes]
rs7550868	1.00[EUR][1000 genomes]
rs7550887	1.00[EUR][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	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr1:93580200-93643600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:93582400-93642800	Weak transcription	Gastric	stomach
3	chr1:93601000-93643600	Weak transcription	HSMMtube	muscle
4	chr1:93606000-93644600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:93611800-93644600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:93615600-93643200	Weak transcription	Fetal Kidney	kidney
7	chr1:93621400-93643000	Weak transcription	HMEC	breast
8	chr1:93621400-93643800	Weak transcription	Colonic Mucosa	Colon
9	chr1:93624000-93643400	Weak transcription	NH-A	brain
10	chr1:93624000-93643600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:93624400-93643600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:93624800-93643600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:93624800-93643600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:93625800-93643400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:93633400-93643600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:93634600-93643000	Weak transcription	Right Ventricle	heart
17	chr1:93636200-93642800	Weak transcription	Fetal Brain Female	brain
18	chr1:93636200-93642800	Weak transcription	Pancreas	Pancrea
19	chr1:93636200-93643200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:93636200-93643400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:93636200-93644000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:93636200-93644800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:93636400-93643800	Weak transcription	Fetal Stomach	stomach
24	chr1:93636600-93642800	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:93637400-93642800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:93637600-93643600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:93638000-93643000	Weak transcription	NHLF	lung
28	chr1:93638200-93642800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:93638200-93642800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:93638200-93643600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:93638200-93644000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:93638800-93643000	Weak transcription	Osteobl	bone
33	chr1:93638800-93643200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:93639200-93643400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:93639200-93643600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:93639600-93643000	Weak transcription	Fetal Heart	heart
37	chr1:93639800-93643600	Weak transcription	Placenta	Placenta
38	chr1:93640000-93642400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:93640000-93642400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:93640000-93642600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:93640000-93642600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:93640200-93642400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:93640200-93643800	Weak transcription	Aorta	Aorta
44	chr1:93640400-93643000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:93640600-93642800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:93640600-93643400	Weak transcription	Fetal Intestine Large	intestine
47	chr1:93640600-93643600	Weak transcription	Thymus	Thymus
48	chr1:93641000-93644000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:93641200-93642600	Strong transcription	HSMM	muscle
50	chr1:93641200-93643200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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