Variant report

Variant	rs6704449
Chromosome Location	chr1:154814992-154814993
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154803153..154805217-chr1:154813761..154815371,2	K562	blood:
2	chr1:154812878..154815262-chr1:154817032..154818549,2	K562	blood:
3	chr1:154814154..154816151-chr1:154819703..154821824,2	K562	blood:
4	chr1:154814172..154816492-chr1:154821493..154823120,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11586348	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588763	0.94[ASN][1000 genomes]
rs12058931	1.00[JPT][hapmap]
rs12128882	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1218566	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1218576	1.00[ASN][1000 genomes]
rs12729486	1.00[JPT][hapmap]
rs12754189	0.94[ASN][1000 genomes]
rs13376333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13376345	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34106427	0.94[ASN][1000 genomes]
rs34292822	0.94[ASN][1000 genomes]
rs34515871	0.94[ASN][1000 genomes]
rs36004974	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61150523	1.00[ASN][1000 genomes]
rs6426985	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6426986	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6426987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658392	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666258	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6666891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6691463	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6691945	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704241	0.96[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv432931	chr1:154794318-154855055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154803200-154824600	Enhancers	Fetal Brain Male	brain
2	chr1:154805600-154816400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:154806200-154818000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:154806800-154817600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:154806800-154817800	Weak transcription	Right Ventricle	heart
6	chr1:154808400-154817000	Enhancers	Fetal Muscle Trunk	muscle
7	chr1:154808400-154823600	Enhancers	Fetal Muscle Leg	muscle
8	chr1:154810400-154817800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:154810600-154816200	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:154811200-154817600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:154812000-154818600	Enhancers	Fetal Stomach	stomach
12	chr1:154812000-154822000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:154812400-154817600	Weak transcription	Psoas Muscle	Psoas
14	chr1:154812400-154824400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:154812600-154815400	Weak transcription	Brain Germinal Matrix	brain
16	chr1:154812600-154816000	Weak transcription	Left Ventricle	heart
17	chr1:154812600-154822000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:154813000-154818600	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:154813200-154816200	Weak transcription	Brain Anterior Caudate	brain
20	chr1:154813200-154816600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:154813200-154817600	Weak transcription	Fetal Intestine Small	intestine
22	chr1:154813200-154818400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:154813200-154818600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:154813200-154818600	Weak transcription	Fetal Kidney	kidney
25	chr1:154813400-154816000	Weak transcription	Fetal Lung	lung
26	chr1:154813400-154816400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:154813400-154817800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:154813400-154818000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:154813400-154818000	Weak transcription	Right Atrium	heart
30	chr1:154813600-154815600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:154813600-154816200	Weak transcription	Brain Substantia Nigra	brain
32	chr1:154813600-154817800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:154813600-154818000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:154813600-154818000	Weak transcription	Spleen	Spleen
35	chr1:154813600-154818400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:154813600-154818400	Weak transcription	Lung	lung
37	chr1:154813800-154815800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:154813800-154816200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:154813800-154816400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:154813800-154816400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:154813800-154821600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:154813800-154822600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:154814000-154816000	Enhancers	Fetal Brain Female	brain
44	chr1:154814000-154816400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:154814000-154817600	Weak transcription	Fetal Thymus	thymus
46	chr1:154814000-154818600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:154814400-154815800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:154814400-154816200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:154814400-154816200	Enhancers	GM12878-XiMat	blood
50	chr1:154814800-154816800	Enhancers	Fetal Intestine Large	intestine

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