Variant report

Variant	rs1729700
Chromosome Location	chr4:74450566-74450567
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	chr4:74448932..74451410-chr4:74453636..74455838,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10003753	0.90[EUR][1000 genomes]
rs10018515	0.90[EUR][1000 genomes]
rs10018813	0.90[EUR][1000 genomes]
rs10018842	0.90[EUR][1000 genomes]
rs10021754	0.90[EUR][1000 genomes]
rs10033598	0.90[EUR][1000 genomes]
rs1105322	0.90[EUR][1000 genomes]
rs11941251	0.90[EUR][1000 genomes]
rs11945939	0.90[EUR][1000 genomes]
rs1247580	0.82[AFR][1000 genomes]
rs1247657	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1247675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1268486	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1528908	0.90[EUR][1000 genomes]
rs1745299	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2367156	0.90[EUR][1000 genomes]
rs2367158	0.90[EUR][1000 genomes]
rs28840157	0.90[EUR][1000 genomes]
rs41438047	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4453908	0.90[EUR][1000 genomes]
rs56268374	0.90[EUR][1000 genomes]
rs60557340	0.86[EUR][1000 genomes]
rs6815239	0.90[EUR][1000 genomes]
rs6815771	0.90[EUR][1000 genomes]
rs6820449	0.90[EUR][1000 genomes]
rs6822028	0.90[EUR][1000 genomes]
rs6822674	0.86[EUR][1000 genomes]
rs6852024	0.90[EUR][1000 genomes]
rs6852247	0.90[EUR][1000 genomes]
rs6852471	0.90[EUR][1000 genomes]
rs6856952	0.90[EUR][1000 genomes]
rs7670052	1.00[CEU][hapmap]
rs7690011	0.90[EUR][1000 genomes]
rs9995523	0.90[EUR][1000 genomes]
rs9995544	0.90[EUR][1000 genomes]
rs9996759	0.90[EUR][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1792624	chr4:74437054-74453857	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74438000-74464800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:74440200-74451200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:74440200-74455200	Weak transcription	Fetal Intestine Small	intestine
4	chr4:74440200-74457400	Weak transcription	Pancreas	Pancrea
5	chr4:74440200-74472600	Weak transcription	Gastric	stomach
6	chr4:74441200-74464800	Weak transcription	Placenta	Placenta
7	chr4:74443600-74455400	Weak transcription	Stomach Mucosa	stomach
8	chr4:74446200-74456000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:74446400-74451000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:74447000-74456000	Strong transcription	Fetal Thymus	thymus
11	chr4:74447600-74455000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:74447600-74463400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:74448600-74451200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:74448800-74450800	Strong transcription	HMEC	breast
15	chr4:74448800-74456000	Weak transcription	Fetal Intestine Large	intestine
16	chr4:74449000-74450600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:74449000-74451200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:74449000-74470200	Weak transcription	Primary T cells from cord blood	blood
19	chr4:74449200-74451000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:74449400-74451200	Strong transcription	Thymus	Thymus
21	chr4:74449600-74450600	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr4:74449800-74451200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:74449800-74451200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:74449800-74454800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:74449800-74455200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:74449800-74461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:74450200-74450600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr4:74450200-74453400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:74450200-74455200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:74450400-74450600	Genic enhancers	NHEK	skin

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