Variant report

Variant	rs11098988
Chromosome Location	chr4:129770068-129770069
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	chr4:129760081..129764752-chr4:129766854..129770363,4	K562	blood:

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

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

rs_ID	r²[population]
rs10518538	0.83[ASN][1000 genomes]
rs11098989	0.94[ASN][1000 genomes]
rs11098991	0.83[ASN][1000 genomes]
rs11722830	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11730068	0.85[ASN][1000 genomes]
rs11734137	0.86[ASN][1000 genomes]
rs11933240	0.94[ASN][1000 genomes]
rs11940298	0.94[ASN][1000 genomes]
rs11945441	0.88[ASN][1000 genomes]
rs12505447	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13110855	0.82[EUR][1000 genomes]
rs13110952	0.85[ASN][1000 genomes]
rs13110956	0.81[ASN][1000 genomes]
rs13114904	0.94[ASN][1000 genomes]
rs13125643	0.94[ASN][1000 genomes]
rs13135764	0.83[ASN][1000 genomes]
rs13136807	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13139971	0.94[ASN][1000 genomes]
rs13143989	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13146706	0.83[ASN][1000 genomes]
rs13150960	0.82[EUR][1000 genomes]
rs17013734	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34843640	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv517249	chr4:129738328-129927804	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129746800-129770200	Weak transcription	HMEC	breast
2	chr4:129753600-129798600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:129753800-129770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:129753800-129795000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:129754400-129770600	Weak transcription	Fetal Kidney	kidney
6	chr4:129760400-129783400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:129761600-129770800	Strong transcription	NHDF-Ad	bronchial
8	chr4:129761600-129779400	Strong transcription	Fetal Stomach	stomach
9	chr4:129761600-129782000	Strong transcription	Fetal Intestine Small	intestine
10	chr4:129761600-129785000	Strong transcription	Thymus	Thymus
11	chr4:129761800-129775000	Strong transcription	GM12878-XiMat	blood
12	chr4:129762000-129782800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr4:129762200-129773800	Strong transcription	Dnd41	blood
14	chr4:129762200-129775000	Strong transcription	Fetal Thymus	thymus
15	chr4:129762400-129771800	Strong transcription	K562	blood
16	chr4:129762400-129775000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:129762400-129775000	Strong transcription	HSMM	muscle
18	chr4:129762400-129784200	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr4:129762600-129775000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:129762600-129775400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:129762800-129784200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:129763000-129774600	Strong transcription	Primary T cells from cord blood	blood
23	chr4:129763000-129783800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:129763000-129785800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:129763000-129787200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:129763200-129784000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:129763200-129784000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:129763400-129774800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:129763400-129784200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:129763600-129774600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr4:129763600-129774800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr4:129763600-129774800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:129763600-129774800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:129763600-129777400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:129763600-129780400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr4:129763600-129786600	Strong transcription	Fetal Intestine Large	intestine
37	chr4:129763800-129774000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:129763800-129774400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr4:129763800-129775000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:129763800-129775200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr4:129763800-129776400	Strong transcription	Hela-S3	cervix
42	chr4:129763800-129776600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr4:129763800-129780400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:129763800-129780400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr4:129763800-129783400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:129763800-129784000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr4:129763800-129784200	Strong transcription	Brain Germinal Matrix	brain
48	chr4:129764000-129771800	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr4:129764000-129774800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:129764000-129775400	Strong transcription	HUVEC	blood vessel

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