Variant report

Variant	rs2096199
Chromosome Location	chr6:44096014-44096015
allele	A/G
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	RCOR1	chr6:44095956-44096801	K562	blood:	n/a	n/a
2	EGR1	chr6:44095532-44096057	K562	blood:	n/a	chr6:44095692-44095702 chr6:44095807-44095820 chr6:44095685-44095695 chr6:44095811-44095821 chr6:44095813-44095826 chr6:44095807-44095820 chr6:44095808-44095817 chr6:44095807-44095820 chr6:44095804-44095818 chr6:44095687-44095700 chr6:44095806-44095821 chr6:44095807-44095817 chr6:44095570-44095583
3	MAX	chr6:44094555-44096822	HepG2	liver:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
4	CTCF	chr6:44095940-44096090	GM12865	blood:	n/a	n/a
5	MXI1	chr6:44093307-44096849	SK-N-SH	brain:	n/a	chr6:44095719-44095728
6	CTCF	chr6:44095940-44096090	GM12868	blood:	n/a	n/a
7	RAD21	chr6:44095911-44096095	K562	blood:	n/a	chr6:44096022-44096035 chr6:44095975-44095988
8	MXI1	chr6:44095851-44096255	GM12878	blood:	n/a	n/a
9	CTCF	chr6:44095980-44096130	HMF	breast:	n/a	n/a
10	MYC	chr6:44095989-44096060	MCF-7	breast:	n/a	n/a
11	CTCF	chr6:44096000-44096150	AG09319	gingival:	n/a	n/a
12	CTCF	chr6:44095920-44096070	GM12874	blood:	n/a	n/a
13	MAX	chr6:44095659-44096308	MCF-7	breast:	n/a	n/a
14	YY1	chr6:44095947-44096114	K562	blood:	n/a	chr6:44096022-44096036 chr6:44095971-44095982
15	RAD21	chr6:44095966-44096148	IMR90	lung:	n/a	chr6:44096022-44096035 chr6:44095975-44095988
16	SIN3A	chr6:44094343-44096576	H1-hESC	embryonic stem cell:	n/a	chr6:44095951-44095960 chr6:44095972-44095985
17	CTCF	chr6:44096005-44096110	MCF-7	breast:	n/a	n/a
18	SIN3AK20	chr6:44095684-44096217	K562	blood:	n/a	n/a
19	POLR2A	chr6:44095817-44096201	K562	blood:	n/a	n/a
20	CTCF	chr6:44096000-44096150	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr6:44095980-44096130	GM12875	blood:	n/a	n/a
22	CTCF	chr6:44095960-44096110	AG04449	skin:	n/a	n/a
23	CTCF	chr6:44096000-44096150	HA-sp	spinal cord:	n/a	n/a
24	CTCF	chr6:44096000-44096150	SAEC	small airway:	n/a	n/a
25	MAZ	chr6:44094352-44096578	K562	blood:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
26	RUNX3	chr6:44095999-44096333	GM12878	blood:	n/a	n/a
27	MAX	chr6:44095691-44096679	K562	blood:	n/a	chr6:44096314-44096324
28	CTCF	chr6:44095980-44096130	BJ	skin:	n/a	n/a
29	CCNT2	chr6:44094448-44096117	K562	blood:	n/a	chr6:44095812-44095821 chr6:44094697-44094706 chr6:44095686-44095695 chr6:44095692-44095701 chr6:44095344-44095353 chr6:44095356-44095365 chr6:44095653-44095662 chr6:44095575-44095584 chr6:44095350-44095359
30	NR2F2	chr6:44095755-44096770	K562	blood:	n/a	n/a
31	CHD1	chr6:44096008-44096051	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr6:44095960-44096110	HMEC	breast:	n/a	n/a
33	ELF1	chr6:44094500-44096213	GM12878	blood:	n/a	chr6:44095979-44095991 chr6:44095640-44095649 chr6:44095299-44095311 chr6:44095685-44095697
34	E2F6	chr6:44095857-44096140	K562	blood:	n/a	chr6:44095975-44095985
35	CTCF	chr6:44096000-44096150	HUVEC	blood vessel:	n/a	n/a
36	MAZ	chr6:44094009-44096852	IMR90	lung:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
37	MAX	chr6:44095742-44096242	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr6:44095988-44096322	K562	blood:	n/a	n/a
39	HMGN3	chr6:44094506-44096613	K562	blood:	n/a	n/a
40	CTCF	chr6:44096000-44096150	K562	blood:	n/a	n/a
41	MAX	chr6:44095665-44096338	H1-hESC	embryonic stem cell:	n/a	chr6:44096314-44096324
42	POLR2A	chr6:44095923-44096075	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr6:44096000-44096150	GM12864	blood:	n/a	n/a
44	TAF1	chr6:44095852-44096133	H1-hESC	embryonic stem cell:	n/a	n/a
45	UBTF	chr6:44095492-44096230	K562	blood:	n/a	n/a
46	HDAC2	chr6:44095273-44096476	MCF-7	breast:	n/a	n/a
47	TBP	chr6:44095973-44096149	K562	blood:	n/a	n/a
48	POLR2A	chr6:44095906-44096055	HepG2	liver:	n/a	n/a
49	CTCF	chr6:44095895-44096558	K562	blood:	n/a	n/a
50	MYC	chr6:44095913-44096503	K562	blood:	n/a	chr6:44096314-44096324

No.	Distal block	Cell Line	Cell type
1	chr6:43740232..43742498-chr6:44094487..44097613,3	K562	blood:
2	chr6:44095603..44096130-chr6:44224891..44225616,2	K562	blood:
3	chr6:44094685..44097058-chr6:44213813..44216236,2	MCF-7	breast:
4	chr6:44055370..44058215-chr6:44094460..44096529,3	K562	blood:
5	chr6:44093370..44096253-chr6:44223564..44226835,7	K562	blood:
6	chr6:44055370..44058215-chr6:44094927..44096529,2	K562	blood:
7	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
8	chr6:44092682..44101478-chr6:44189085..44198306,11	K562	blood:
9	chr6:44094061..44096796-chr6:44223845..44226294,3	K562	blood:
10	chr6:44095576..44096087-chr6:44119284..44120059,2	MCF-7	breast:
11	chr6:44093355..44096767-chr6:44213001..44216421,7	K562	blood:
12	chr6:44042031..44044413-chr6:44095279..44097168,2	K562	blood:
13	chr6:44093355..44100261-chr6:44212966..44217093,13	K562	blood:
14	chr6:44094789..44096473-chr6:44279267..44282226,2	K562	blood:
15	chr6:44095005..44097134-chr6:44184170..44186416,2	K562	blood:
16	chr6:43595621..43598855-chr6:44092842..44097752,6	K562	blood:

Variant related genes	Relation type
MRPL14	TF binding region
ENSG00000124608	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000262179	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000183239	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000157593	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs4610558	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56168551	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57139546	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57576544	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59842359	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60105057	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60207481	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs66629131	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6935537	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73429745	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7742030	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7742824	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7752653	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7755223	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7773700	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3325720	chr6:44094199-44096747	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	esv3347288	chr6:44094599-44097147	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2096199	MRPL14	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44093200-44096200	Active TSS	Lung	lung
2	chr6:44093400-44096200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr6:44093800-44096400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr6:44093800-44096400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr6:44094000-44096200	Active TSS	Esophagus	oesophagus
6	chr6:44094000-44096200	Active TSS	HMEC	breast
7	chr6:44094000-44096800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr6:44094000-44096800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:44094200-44096200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:44094200-44096200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:44094200-44096200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:44094200-44096200	Active TSS	Fetal Intestine Small	intestine
13	chr6:44094200-44096200	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr6:44094200-44096200	Active TSS	GM12878-XiMat	blood
15	chr6:44094200-44096200	Active TSS	Osteobl	bone
16	chr6:44094200-44096400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:44094200-44096400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:44094200-44096400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr6:44094200-44096400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:44094200-44096400	Active TSS	Small Intestine	intestine
21	chr6:44094200-44096400	Active TSS	NHDF-Ad	bronchial
22	chr6:44094200-44096800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:44094200-44096800	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr6:44094200-44096800	Active TSS	Fetal Kidney	kidney
25	chr6:44094200-44096800	Active TSS	HSMM	muscle
26	chr6:44094400-44096200	Active TSS	H1 Cell Line	embryonic stem cell
27	chr6:44094400-44096200	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr6:44094400-44096200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:44094400-44096200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:44094400-44096200	Active TSS	Primary T cells from cord blood	blood
31	chr6:44094400-44096200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:44094400-44096200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:44094400-44096200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr6:44094400-44096200	Active TSS	Fetal Intestine Large	intestine
35	chr6:44094400-44096200	Active TSS	Left Ventricle	heart
36	chr6:44094400-44096200	Active TSS	Placenta Amnion	Placenta Amnion
37	chr6:44094400-44096200	Active TSS	Psoas Muscle	Psoas
38	chr6:44094400-44096200	Active TSS	Stomach Mucosa	stomach
39	chr6:44094400-44096200	Active TSS	A549	lung
40	chr6:44094400-44096200	Active TSS	NHEK	skin
41	chr6:44094400-44096400	Active TSS	Hela-S3	cervix
42	chr6:44094400-44096600	Active TSS	HSMMtube	muscle
43	chr6:44094400-44096800	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr6:44094400-44096800	Active TSS	NHLF	lung
45	chr6:44094600-44096200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:44094600-44096200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:44094600-44096200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:44094600-44096200	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr6:44094600-44096200	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr6:44094600-44096200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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