Variant report

Variant	rs35501727
Chromosome Location	chr4:129875757-129875758
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	chr4:129869703..129871375-chr4:129874757..129876510,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11098995	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098996	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11722717	0.88[ASN][1000 genomes]
rs11723520	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11726460	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11728895	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11737495	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12500480	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12500938	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501997	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12505609	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12509933	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13107038	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13115576	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118479	1.00[ASN][1000 genomes]
rs13124420	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13129706	1.00[ASN][1000 genomes]
rs13134769	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13144594	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13146453	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13148505	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1446996	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17014099	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34145504	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34359646	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34514942	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34633860	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34810794	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35094990	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35363237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35693043	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35961303	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35975200	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4552476	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62316964	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62316972	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62317936	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62318662	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66737416	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
3	nsv1026938	chr4:129770961-129936205	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv870175	chr4:129771718-129937945	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1026772	chr4:129773881-129936205	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv461637	chr4:129774375-129924977	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv595397	chr4:129774375-129924977	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv461638	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv595398	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv1018994	chr4:129775612-129933968	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv1034996	chr4:129777825-129905255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv537249	chr4:129777825-129905255	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv1022446	chr4:129778025-129905116	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv537250	chr4:129778025-129905116	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS 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
16	nsv1030296	chr4:129778025-129920680	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv537251	chr4:129778025-129920680	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
18	esv2830419	chr4:129785483-129905256	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
19	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv1026722	chr4:129801602-129929219	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv537252	chr4:129801602-129929219	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv595399	chr4:129835649-129924852	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv1020327	chr4:129859624-129914665	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129793800-129907200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:129834800-129907400	Weak transcription	Aorta	Aorta
3	chr4:129837600-129888200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:129839600-129882800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr4:129839800-129882800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:129839800-129907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:129841000-129907400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:129843600-129888000	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:129845000-129882800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:129845400-129907400	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:129845800-129907200	Weak transcription	Ovary	ovary
12	chr4:129847800-129895400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:129851000-129879000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:129855200-129907800	Weak transcription	K562	blood
15	chr4:129855400-129895200	Weak transcription	Fetal Kidney	kidney
16	chr4:129856400-129907200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:129858600-129891200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:129861000-129907200	Weak transcription	Thymus	Thymus
19	chr4:129862200-129877600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:129862400-129881600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:129862400-129924200	Weak transcription	Colonic Mucosa	Colon
22	chr4:129863400-129882800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:129863600-129892000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:129863800-129888600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:129864000-129882400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr4:129864000-129882800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr4:129864000-129895400	Weak transcription	NHLF	lung
28	chr4:129864000-129918000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:129864200-129895400	Weak transcription	Fetal Lung	lung
30	chr4:129864400-129879200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:129864400-129882600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:129864400-129885400	Weak transcription	HMEC	breast
33	chr4:129864400-129901000	Weak transcription	A549	lung
34	chr4:129864600-129888200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr4:129865600-129907200	Weak transcription	Pancreas	Pancrea
36	chr4:129866400-129888600	Weak transcription	NH-A	brain
37	chr4:129866400-129888800	Weak transcription	Brain Germinal Matrix	brain
38	chr4:129866400-129907600	Weak transcription	Small Intestine	intestine
39	chr4:129866600-129916600	Weak transcription	Right Ventricle	heart
40	chr4:129866800-129916200	Weak transcription	Hela-S3	cervix
41	chr4:129867000-129907400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:129868200-129882600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr4:129868200-129935600	Weak transcription	HSMM	muscle
44	chr4:129868400-129879000	Weak transcription	Fetal Intestine Small	intestine
45	chr4:129868400-129888000	Weak transcription	Left Ventricle	heart
46	chr4:129868400-129888600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:129868400-129890000	Weak transcription	Fetal Stomach	stomach
48	chr4:129868600-129878800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:129868600-129879000	Weak transcription	Primary T cells from cord blood	blood
50	chr4:129868600-129879200	Weak transcription	Dnd41	blood

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